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  1. Generation of a hiPSC from a patient with an ITSN1-associated neurodevelopmental disorder spectrum carrying biallelic c.2893_2894insA (p.Tyr965Ter) genetic variant

    Article • Stem Cell Research, September 2026, Elsevier

    Dr Vykuntaraju K Gowda

  2. Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients

    Article • Seizure, August 2026, Elsevier

    Dr Vykuntaraju K Gowda

  3. Adolescent onset of susceptibility to acute infection-induced encephalopathy-9 mimicking immune-mediated encephalitis

    Article • BMJ Case Reports, August 2026, BMJ

    Dr Vykuntaraju K Gowda

  4. Developmental delay, white matter changes, and multiple endocrine hormone deficiencies in MADD-related disorders: a new case and phenotypic expansion

    Article • Clinical Dysmorphology, July 2026, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  5. Comprehensive Structural MRI Phenotyping in Oligophrenin 1- Related Disorder Reveals Characteristic Brain Malformations

    Article • American Journal of Neuroradiology, July 2026, American Society of Neuroradiology (ASNR)

    Dr Vykuntaraju K Gowda

  6. Striatal Variant of POLR3A: Report of Two Indian Cases

    Article • Neurology India, July 2026, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  7. Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly

    Article • Genetics in Medicine, May 2026, Elsevier

    Dr Vykuntaraju K Gowda

  8. Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement

    Article • Genetics in Medicine, May 2026, Elsevier

    Dr Vykuntaraju K Gowda

  9. Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India

    Article • Orphanet Journal of Rare Diseases, March 2026, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  10. Truncating Variants in KIF5C Cause a Milder Disorder Distinct from KIF5C-Associated Cortical Dysplasia

    Article • Pediatric Neurology, March 2026, Elsevier

    Dr Vykuntaraju K Gowda

  11. Expanding the Phenotype of STAMBP ‐Related Microcephaly‐Capillary Malformation Syndrome

    Article • American Journal of Medical Genetics Part A, January 2026, Wiley

    Dr Vykuntaraju K Gowda

  12. Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine

    Article • Orphanet Journal of Rare Diseases, January 2026, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  13. Hypoglycorrhachia: From Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) to Pyridox(am)ine-5′-Phosphate Oxidase (PNPO) Deficiency: A Fifteen-Year Diagnostic Journey Redefined by Genomic Insights

    Article • The Indian Journal of Pediatrics, January 2026, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  14. CTC1 mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH Infection

    Article • BMJ Case Reports, January 2026, BMJ

    Dr Vykuntaraju K Gowda

  15. Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome

    Article • BMJ Case Reports, January 2026, BMJ

    Dr Vykuntaraju K Gowda

  16. Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy

    Article • January 2026, Elsevier

    Dr Vykuntaraju K Gowda

  17. Megalencephalic Leukoencephalopathy Type 2B

    Article • The Indian Journal of Pediatrics, December 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  18. Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4

    Article • BMJ Case Reports, December 2025, BMJ

    Dr Vykuntaraju K Gowda

  19. Paediatric myelin oligodendrocyte glycoprotein antibody-associated disease with NMDA receptor encephalitis: overlap syndrome and challenges in the antibody testing

    Article • BMJ Case Reports, December 2025, BMJ

    Dr Vykuntaraju K Gowda

  20. Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination

    Article • BMJ Case Reports, December 2025, BMJ

    Dr Vykuntaraju K Gowda

  21. Clinical Applications and Implications of Neuroimaging

    Article • November 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  22. Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    Article • Journal of Clinical Investigation, November 2025, American Society for Clinical Investigation

    EVA BERMEJO-SANCHEZ, Dr Vykuntaraju K Gowda

  23. Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene

    Article • BMJ Case Reports, November 2025, BMJ

    Dr Vykuntaraju K Gowda

  24. Validation and Modified Application of the 2023 International Expert Consensus Criteria for Diagnosing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease Among Children With Acquired Demyelination in Resource-Limited Regions

    Article • Pediatric Neurology, November 2025, Elsevier

    Dr Vykuntaraju K Gowda

  25. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts

    Article • Journal of Neuromuscular Diseases, October 2025, SAGE Publications

    Dr Vykuntaraju K Gowda

  26. Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India

    Article • Brain and Development, October 2025, Elsevier

    Dr Vykuntaraju K Gowda

  27. Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Masquerading as Herpes Simplex Virus Encephalitis

    Article • Annals of Child Neurology, September 2025, The Korean Child Neurology Society

    Dr Vykuntaraju K Gowda

  28. Effectiveness of augmentative alternative communication therapy in children with cerebral palsy with expressive speech delay

    Article • International Journal of Contemporary Pediatrics, September 2025, Medip Academy

    Dr Vykuntaraju K Gowda

  29. A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis

    Article • BMJ Case Reports, September 2025, BMJ

    Dr Vykuntaraju K Gowda

  30. Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation

    Article • BMJ Case Reports, September 2025, BMJ

    Dr Vykuntaraju K Gowda

  31. 362PExploring multisystem involvement in primary mitochondrial disorders: insights from a pediatric cohort from India

    Article • Neuromuscular Disorders, September 2025, Elsevier

    Dr Vykuntaraju K Gowda

  32. 97PFIG4-related neuropediatric phenotypes: rare and multifaceted diagnoses associated with particular protein changes

    Article • Neuromuscular Disorders, September 2025, Elsevier

    Dr Vykuntaraju K Gowda

  33. USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review

    Article • Clinical Dysmorphology, August 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  34. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply

    Article • The Indian Journal of Pediatrics, August 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  35. Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings

    Article • BMJ Case Reports, August 2025, BMJ

    Dr Vykuntaraju K Gowda

  36. Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome

    Article • BMJ Case Reports, August 2025, BMJ

    Dr Vykuntaraju K Gowda

  37. Development and internal validation of clinical prediction models for scrub typhus and doxycycline-treatable causes in paediatric acute encephalitis syndrome in Karnataka, India: a multicentre, prospective study

    Article • The Lancet Regional Health - Southeast Asia, August 2025, Elsevier

    Dr Vykuntaraju K Gowda

  38. Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis

    Article • Journal of Pediatric Genetics, July 2025, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  39. Atypical presentation of mucolipidosis type III

    Article • BMJ Case Reports, July 2025, BMJ

    Dr Vykuntaraju K Gowda

  40. Clinical Profile, Genotype Spectrum, and Outcomes in an Indian Cohort of Patients with Myotonia Congenita

    Article • Journal of Pediatric Neurosciences, July 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  41. From acute flaccid paralysis (AFP)–Guillain–Barre Syndrome (GBS) and myelitis to progressive encephalopathy : acute disseminated encephalomyelitis (ADEM) atypical presentation of rabies following dog bite

    Article • BMJ Case Reports, June 2025, BMJ

    Dr Vykuntaraju K Gowda

  42. Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes

    Article • Brain and Development, June 2025, Elsevier

    Dr Vykuntaraju K Gowda

  43. Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report

    Article • Clinical Dysmorphology, May 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  44. HPDL Variant Type Correlates With Clinical Disease Onset and Severity

    Article • Annals of Clinical and Translational Neurology, May 2025, Wiley

    Dr Vykuntaraju K Gowda

  45. Neuromelanosis masquerading as tubercular bacterial meningitis

    Article • BMJ Case Reports, May 2025, BMJ

    Dr Vykuntaraju K Gowda

  46. Mass spectrometry analysis of B vitamins in a drop of maternal milk with concern for child health

    Article • Microchemical Journal, May 2025, Elsevier

    Dr Vykuntaraju K Gowda

  47. Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study

    Article • Indian Pediatrics, April 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  48. Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India

    Article • Indian Pediatrics, April 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  49. Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India

    Article • Annals of Indian Academy of Neurology, April 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  50. Glutaric aciduria type-1 in a teenager with nutritional vitamin B12deficiency: coexistence of two treatable conditions

    Article • BMJ Case Reports, April 2025, BMJ

    Dr Vykuntaraju K Gowda

  51. Subacute sclerosing panencephalitis (SSPE) masquerading as acute disseminated encephalomyelitis (ADEM)

    Article • BMJ Case Reports, April 2025, BMJ

    Dr Vykuntaraju K Gowda

  52. Does Recurrent Guillain–Barre Syndrome Exist in Children? A Retrospective Observational study

    Article • Journal of Pediatric Neurosciences, April 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  53. Pediatric Opsoclonus-Myoclonus Ataxia Syndrome (OMAS) Following Scrub Typhus: A Case Series

    Article • Journal of Pediatric Neurosciences, April 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  54. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay

    Article • The Indian Journal of Pediatrics, March 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  55. Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD)

    Article • The Indian Journal of Pediatrics, March 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  56. Expanding the Phenotypic Spectrum of DPH2‐Related Disorder

    Article • American Journal of Medical Genetics Part A, March 2025, Wiley

    Dr Vykuntaraju K Gowda

  57. Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever

    Article • The Indian Journal of Pediatrics, March 2025, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  58. Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications–Challenges in Diagnosis and Management

    Article • Annals of Indian Academy of Neurology, March 2025, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  59. A multifaceted intervention to improve diagnosis and early management of hospitalised patients with suspected acute brain infections in Brazil, India, and Malawi: an international multicentre intervention study

    Article • The Lancet, March 2025, Elsevier

    Nicola Desmond, Dr Vykuntaraju K Gowda

  60. Impact of Screen Time and Occurrence of Autism Spectrum Disorder among Toddlers in Field Practice Area at Tertiary Care Medical College of Southern India: A Cross-sectional Study

    Article • JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, March 2025, JCDR Research and Publications

    Dr Vykuntaraju K Gowda

  61. Congenital generalised lipodystrophy type 2

    Article • BMJ Case Reports, February 2025, BMJ

    Dr Vykuntaraju K Gowda

  62. Microbiological Investigations for Chikungunya Virus in Children With Acute Encephalitis Syndrome in a Non‐Outbreak Setting in Southern India

    Article • Journal of Medical Virology, February 2025, Wiley

    Dr Vykuntaraju K Gowda

  63. Diagnostic Markers of Severe COVID‐19 and Community‐Acquired Pneumonia in Children From Southern India

    Article • Microbiology and Immunology, January 2025, Wiley

    Dr Vykuntaraju K Gowda

  64. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

    Article • Genetics in Medicine, January 2025, Elsevier

    Nourelhoda Haridy, Dr Vykuntaraju K Gowda

  65. Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

    Article • Brain Communications, January 2025, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  66. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

    Article • Brain Communications, December 2024, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  67. Two Molecular Diagnoses in an Individual with Hailey-Hailey Disease and Genetic Epilepsy with Febrile Seizure Plus

    Article • The Indian Journal of Pediatrics, December 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  68. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India

    Article • The Indian Journal of Pediatrics, December 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  69. Pediatric Onset Multiple Sclerosis (POMS)

    Article • The Indian Journal of Pediatrics, December 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  70. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD

    Article • The Indian Journal of Pediatrics, November 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  71. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

    Article • Genetics in Medicine, November 2024, Elsevier

    Dr Vykuntaraju K Gowda

  72. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome

    Article • American Journal of Medical Genetics Part A, October 2024, Wiley

    Dr Vykuntaraju K Gowda

  73. 316VP What you see is what it is: the tales of two brothers with rare intronic dystrophin gene duplication

    Article • Neuromuscular Disorders, October 2024, Elsevier

    Dr Vykuntaraju K Gowda

  74. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria

    Article • The Indian Journal of Pediatrics, September 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  75. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Article • Genetics in Medicine, September 2024, Elsevier

    ozlem sezer, Dr Philippe M Campeau, Dr Vykuntaraju K Gowda

  76. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

    Article • Nature Communications, August 2024, Springer Science + Business Media

    Associate Professor Tawfiq Froukh, Dr Vykuntaraju K Gowda

  77. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

    Article • Neurology Genetics, August 2024, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  78. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency

    Article • The Indian Journal of Pediatrics, June 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  79. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection

    Article • The Indian Journal of Pediatrics, May 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  80. A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant—Checkerboard and Phylloid Type of Pigmentary Mosaicism

    Article • Journal of Pediatric Genetics, May 2024, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  81. Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India

    Article • Indian Dermatology Online Journal, May 2024, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  82. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

    Article • Human Genomics, May 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  83. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)

    Article • The Indian Journal of Pediatrics, May 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  84. Diagnostic markers of acute encephalitis syndrome and COVID‐associated multisystem inflammatory syndrome in children from Southern India

    Article • Journal of Medical Virology, May 2024, Wiley

    Dr Vykuntaraju K Gowda

  85. Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism

    Article • British Journal of Dermatology, April 2024, Oxford University Press (OUP)

    Vinay Keshavamurthy, Dr Vykuntaraju K Gowda

  86. Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia

    Article • Movement Disorders, April 2024, Wiley

    Dr Vykuntaraju K Gowda

  87. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply

    Article • The Indian Journal of Pediatrics, March 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  88. Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children

    Article • International Journal of Dermatology, February 2024, Wiley

    Dr Vykuntaraju K Gowda

  89. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy

    Article • The Indian Journal of Pediatrics, February 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  90. Biallelic variation in the choline and ethanolamine transporterFLVCR1underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

    Article • February 2024, Cold Spring Harbor Laboratory Press

    Nourelhoda Haridy, Dr Vykuntaraju K Gowda

  91. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply

    Article • The Indian Journal of Pediatrics, January 2024, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  92. KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature

    Article • Epilepsia, January 2024, Wiley

    Dr Vykuntaraju K Gowda

  93. In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population

    Article • Journal of Family Medicine and Primary Care, January 2024, Medknow

    Dr Vykuntaraju K Gowda

  94. Comprehensive immunoprofiling of neurodevelopmental disorders suggests three distinct classes based on increased neurogenesis, Th-1 polarization or IL-1 signaling

    Article • Brain Behavior and Immunity, January 2024, Elsevier

    Dr Vykuntaraju K Gowda

  95. A Multifaceted Intervention to Improve Diagnosis and Early Management of Hospitalised Patients with Suspected Acute Brain Infections in Brazil, India and Malawi

    Article • January 2024, Elsevier

    Dr Vykuntaraju K Gowda

  96. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency

    Article • The Indian Journal of Pediatrics, December 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  97. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes

    Article • The Indian Journal of Pediatrics, December 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  98. The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child

    Article • Annals of Indian Academy of Neurology, December 2023, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  99. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings

    Article • The Indian Journal of Pediatrics, December 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  100. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis

    Article • The Indian Journal of Pediatrics, December 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  101. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

    Article • Genetics in Medicine, November 2023, Elsevier

    Dr Karen W Gripp, Dr Vykuntaraju K Gowda

  102. Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome

    Article • Indian Pediatrics, September 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  103. Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

    Article • Epilepsia Open, August 2023, Wiley

    Dr Vykuntaraju K Gowda

  104. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

    Article • Genes, August 2023, MDPI AG

    Dr Vykuntaraju K Gowda

  105. Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox

    Article • Annals of Indian Academy of Neurology, August 2023, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  106. Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

    Article • Annals of Clinical and Translational Neurology, August 2023, Wiley

    Dr Vykuntaraju K Gowda

  107. Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation

    Article • Clinical Dysmorphology, August 2023, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  108. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

    Article • Genetics in Medicine, August 2023, Elsevier

    Dr Vykuntaraju K Gowda

  109. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency

    Article • Journal of Pediatric Neurology, July 2023, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  110. A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia

    Article • American Journal of Medical Genetics Part A, June 2023, Wiley

    Dr Vykuntaraju K Gowda

  111. PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome

    Article • The Indian Journal of Pediatrics, June 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  112. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India

    Article • Parkinsonism & Related Disorders, June 2023, Elsevier

    Dr Vykuntaraju K Gowda

  113. Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings

    Article • Advanced Biomedical Research, June 2023, Medknow

    Dr Vykuntaraju K Gowda

  114. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency

    Article • The Indian Journal of Pediatrics, May 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  115. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    Article • Journal of Clinical Investigation, May 2023, American Society for Clinical Investigation

    EVA BERMEJO-SANCHEZ, Dr Vykuntaraju K Gowda

  116. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

    Article • Human Genetics, May 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  117. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center

    Article • Journal of Pediatric Epilepsy, May 2023, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  118. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)

    Article • The Indian Journal of Pediatrics, April 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  119. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications

    Article • The Indian Journal of Pediatrics, April 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  120. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia

    Article • The Indian Journal of Pediatrics, April 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  121. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India

    Article • Journal of Pediatric Neurology, April 2023, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  122. Association of Scrub Typhus in Children with Acute Encephalitis Syndrome and Meningoencephalitis, Southern India

    Article • Emerging Infectious Diseases, April 2023, Centers for Disease Control and Prevention (CDC)

    Dr Vykuntaraju K Gowda

  123. Etiological Evaluation of Infantile Epileptic Spasms Syndrome (West Syndrome) Based on the New 2017 International League Against Epilepsy Seizure Classification from Southern India

    Article • Journal of Pediatric Neurosciences, April 2023, Medknow

    Dr Vykuntaraju K Gowda

  124. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate

    Article • The Indian Journal of Pediatrics, March 2023, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  125. Neuroimaging Features of Biotinidase Deficiency

    Article • American Journal of Neuroradiology, February 2023, American Society of Neuroradiology (ASNR)

    Dr Vykuntaraju K Gowda

  126. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Article • Genetics in Medicine, January 2023, Elsevier

    Dr Vykuntaraju K Gowda

  127. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

    Article • Genetics in Medicine, January 2023, Elsevier

    Dr Vykuntaraju K Gowda

  128. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

    Article • Molecular Genetics and Metabolism Reports, December 2022, Elsevier

    Dr Vykuntaraju K Gowda

  129. Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India

    Article • Journal of Neurosciences in Rural Practice, October 2022, Scientific Scholar

    Dr Vykuntaraju K Gowda

  130. P.24 Consensus and collaboration approach to better defining and implementing harmonised standards of care across a healthcare system: Examples from DMD care

    Article • Neuromuscular Disorders, October 2022, Elsevier

    Dr Vykuntaraju K Gowda

  131. Sleep outcomes in spinal muscular atrophy and role of disease-modifying treatments.

    Article • September 2022, European Respiratory Society (ERS)

    Dr Vykuntaraju K Gowda

  132. Basal Ganglia Autoimmune Encephalitis Following Leptospirosis

    Article • Neurology India, September 2022, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  133. Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

    Article • August 2022, openRxiv

    Associate Professor Tawfiq Froukh, Dr Vykuntaraju K Gowda

  134. Profile of Central Nervous System Malformations in Children from a Tertiary Care Center in Southern India

    Article • Journal of Pediatric Neurosciences, July 2022, Medknow

    Dr Vykuntaraju K Gowda

  135. Clinical profile and treatment outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian children

    Article • Movement Disorders Clinical Practice, July 2022, Wiley

    Subramanian Annadurai, Dr Vykuntaraju K Gowda

  136. Images

    Article • Indian Pediatrics, July 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  137. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms

    Article • Journal of Neurosciences in Rural Practice, June 2022, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  138. Prevalence of peripheral neuropathy in children with type 1 diabetes mellitus

    Article • Journal of Pediatric Neurosciences, June 2022, Medknow

    Dr Vykuntaraju K Gowda

  139. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder

    Article • The Indian Journal of Pediatrics, May 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  140. Ceroid Lipofuscinosis in Children: Author's Reply

    Article • Journal of Pediatric Genetics, May 2022, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  141. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Article • Brain, April 2022, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  142. Encephalitis-like Presentation in Infants of Bodo Tribe — Thiamine Deficiency or Leigh-like Disease?

    Article • Indian Pediatrics, April 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  143. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1

    Article • The Indian Journal of Pediatrics, March 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  144. Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene

    Article • Annals of Indian Academy of Neurology, March 2022, Medknow

    Dr Vykuntaraju K Gowda

  145. Profile of Neurological Manifestations in Children Presenting With Rickettsial Disease

    Article • Indian Pediatrics, January 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  146. Disorders of Tetrahydrobiopterin Metabolism: Experience from South India

    Article • Metabolic Brain Disease, January 2022, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  147. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

    Article • Journal of Pediatric Genetics, January 2022, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  148. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type

    Article • Journal of Pediatric Genetics, January 2022, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  149. Pattern of Recurrent Pediatric Headache

    Article • Journal of Pediatric Neurosciences, January 2022, Medknow

    Dr Vykuntaraju K Gowda

  150. Profile of Worster Drought Syndrome (WDS)

    Article • Journal of Pediatric Neurosciences, January 2022, Medknow

    Dr Vykuntaraju K Gowda

  151. Case Series of Ethylmalonic Encephalopathy from Southern India

    Article • Journal of Pediatric Genetics, December 2021, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  152. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

    Article • Journal of Pediatric Genetics, November 2021, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  153. Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant

    Article • Annals of Indian Academy of Neurology, November 2021, Medknow

    Dr Vykuntaraju K Gowda

  154. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases

    Article • Seizure, November 2021, Elsevier

    Dr Vykuntaraju K Gowda

  155. Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India

    Article • Brain and Development, November 2021, Elsevier

    Dr Vykuntaraju K Gowda

  156. Infantile Tremor Syndrome Presenting as Stroke

    Article • The Indian Journal of Pediatrics, October 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  157. Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India

    Article • Journal of Pediatric Neurosciences, October 2021, Medknow

    Dr Vykuntaraju K Gowda

  158. Thyroid Hormone Transporter Defect

    Article • Journal of Pediatric Neurosciences, October 2021, Medknow

    Dr Vykuntaraju K Gowda

  159. Treatable Neurodegenerative Disorder

    Article • Journal of Pediatric Neurosciences, October 2021, Medknow

    Dr Vykuntaraju K Gowda

  160. Nonepileptic Paroxysmal Events (NEPE) in Children

    Article • The Indian Journal of Pediatrics, September 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  161. Krabbe Disease with Normal Enzyme Assay with a Pathogenic Variant in GALC Gene—A Report of Two Indian Cases

    Article • Annals of Indian Academy of Neurology, September 2021, Medknow

    Dr Vykuntaraju K Gowda

  162. Disorders of Tetrahydrobiopterin Metabolism: Experience from South India

    Article • August 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  163. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome

    Article • The Indian Journal of Pediatrics, August 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  164. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder

    Article • The Indian Journal of Pediatrics, August 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  165. Etiological Pattern of Movement Disorders in Children

    Article • The Indian Journal of Pediatrics, June 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  166. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India

    Article • Journal of Pediatric Genetics, June 2021, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  167. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients

    Article • Human Mutation, June 2021, Wiley

    Dr Vykuntaraju K Gowda

  168. Canavan Disease

    Article • Annals of Indian Academy of Neurology, May 2021, Wolters Kluwer Health

    Dr Vykuntaraju K Gowda

  169. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child

    Article • The Indian Journal of Pediatrics, April 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  170. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype

    Article • European Journal of Paediatric Neurology, March 2021, Elsevier

    Dr Vykuntaraju K Gowda

  171. Effectiveness and Safety of Brivaracetam in Children

    Article • The Indian Journal of Pediatrics, February 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  172. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children

    Article • The Indian Journal of Pediatrics, January 2021, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  173. Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance

    Article • European Journal of Neurology, January 2021, Wiley

    Dr Vykuntaraju K Gowda

  174. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India

    Article • Journal of Neurosciences in Rural Practice, January 2021, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  175. Acute flaccid myelitis: cause, diagnosis, and management

    Article • The Lancet, January 2021, Elsevier

    Dr Kevin Messacar , Dr Vykuntaraju K Gowda

  176. Alpha-mannosidosis from India due to a novel pathogenic variant in MAN2B1 gene

    Article • Journal of Pediatric Neurosciences, January 2021, Medknow

    Dr Vykuntaraju K Gowda

  177. Anti-NMDAR encephalitis presenting as stroke-like episodes in children: A case series from a tertiary care referral centre from Southern India

    Article • Journal of Pediatric Neurosciences, January 2021, Medknow

    Dr Vykuntaraju K Gowda

  178. Case series of early SCN1A-related developmental and epileptic encephalopathies

    Article • Journal of Pediatric Neurosciences, January 2021, Medknow

    Dr Vykuntaraju K Gowda

  179. Familial global developmental delay secondary to β-mannosidosis

    Article • Journal of Pediatric Neurosciences, January 2021, Medknow

    Dr Vykuntaraju K Gowda

  180. Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene

    Article • Journal of Pediatric Neurosciences, January 2021, Medknow

    Dr Vykuntaraju K Gowda

  181. Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

    Article • Journal of Pediatric Genetics, December 2020, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  182. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant

    Article • The Indian Journal of Pediatrics, November 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  183. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

    Article • Journal of Pediatric Genetics, October 2020, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  184. A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis

    Article • Journal of Pediatric Genetics, October 2020, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  185. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature

    Article • Journal of Pediatric Genetics, August 2020, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  186. Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India

    Article • Journal of Pediatric Genetics, August 2020, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  187. CASPR2-Mediated Autoimmune Encephalitis in a Toddler

    Article • Indian Pediatrics, August 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  188. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India

    Article • Journal of Pediatric Genetics, July 2020, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  189. Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy

    Article • Journal of Pediatric Genetics, July 2020, Mathematical Modelling and Numerical Simulation with Applications

    Dr Vykuntaraju K Gowda

  190. Horizontal Gaze Palsy with Progressive Kyphoscoliosis

    Article • The Indian Journal of Pediatrics, July 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  191. Sotos Syndrome Presenting without Gigantism

    Article • The Indian Journal of Pediatrics, June 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  192. Seropositive Anti-NMDAR Mediated Autoimmune Encephalitis

    Article • The Indian Journal of Pediatrics, May 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  193. KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

    Article • Epilepsia, March 2020, Wiley

    Dr Vykuntaraju K Gowda

  194. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant

    Article • The Indian Journal of Pediatrics, March 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  195. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms

    Article • The Indian Journal of Pediatrics, March 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  196. Fucosidosis with Pathogenic Variant in FUCA1 Gene

    Article • The Indian Journal of Pediatrics, March 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  197. Report of Two Siblings with Andermann Syndrome

    Article • The Indian Journal of Pediatrics, February 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  198. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma

    Article • The Indian Journal of Pediatrics, February 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  199. Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance

    Article • PLoS Neglected Tropical Diseases, February 2020, PLOS

    Dr Vykuntaraju K Gowda

  200. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency

    Article • The Indian Journal of Pediatrics, February 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  201. Waardenburg Syndrome Type I

    Article • The Indian Journal of Pediatrics, January 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  202. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9

    Article • The Indian Journal of Pediatrics, January 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  203. Levetiracetam versus fosphenytoin in pediatric convulsive status epilepticus: A randomized controlled trial

    Article • Journal of Pediatric Neurosciences, January 2020, Medknow

    Dr Vykuntaraju K Gowda

  204. Macrophagic myofasciitis: A report of two south Indian infants

    Article • Journal of Pediatric Neurosciences, January 2020, Medknow

    Dr Vykuntaraju K Gowda

  205. Osteoporosis pseudoglioma syndrome

    Article • Journal of Pediatric Neurosciences, January 2020, Medknow

    Dr Vykuntaraju K Gowda

  206. Correspondence

    Article • Indian Pediatrics, January 2020, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  207. Spectrum of Nonepileptic Paroxysmal Events in Children from Southern India

    Article • Journal of Neurosciences in Rural Practice, December 2019, Scientific Scholar

    Dr Vykuntaraju K Gowda

  208. Correspondence

    Article • Indian Pediatrics, December 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  209. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA): Correspondence

    Article • The Indian Journal of Pediatrics, November 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  210. Etiological Evaluation of Global Developmental Delay

    Article • The Indian Journal of Pediatrics, October 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  211. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)

    Article • The Indian Journal of Pediatrics, August 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  212. Levetiracetam versus Phenobarbitone in Neonatal Seizures — A Randomized Controlled Trial

    Article • Indian Pediatrics, August 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  213. Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

    Article • Neuropediatrics, July 2019, Thieme Publishing Group

    Dr Vykuntaraju K Gowda

  214. Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome

    Article • Indian Pediatrics, June 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  215. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

    Article • Deutsche Zeitschrift für Nervenheilkunde, May 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  216. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life

    Article • The Indian Journal of Pediatrics, March 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  217. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency

    Article • The Indian Journal of Pediatrics, February 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  218. A Case of Juvenile Alexander Disease Presenting as Microcephaly

    Article • The Indian Journal of Pediatrics, January 2019, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  219. Clinical and radiological profiles, treatment, and outcome of pediatric acquired demyelinating disorders of central nervous system

    Article • Journal of Pediatric Neurosciences, January 2019, Medknow

    Dr Vykuntaraju K Gowda

  220. Etiological profile of afebrile seizures in infants in a tertiary care center from southern India

    Article • Journal of Pediatric Neurosciences, January 2019, Medknow

    Dr Vykuntaraju K Gowda

  221. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study

    Article • The Indian Journal of Pediatrics, September 2018, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  222. Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

    Article • British Journal of Dermatology, September 2018, Wiley

    Dr Vykuntaraju K Gowda

  223. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India

    Article • Journal of Tropical Pediatrics, August 2018, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  224. Fazio-Londe syndrome in siblings from India with different phenotypes

    Article • Brain and Development, August 2018, Elsevier

    Dr Vykuntaraju K Gowda

  225. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

    Article • The Indian Journal of Pediatrics, July 2018, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  226. Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation

    Article • The Indian Journal of Pediatrics, March 2018, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  227. A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1

    Article • The Indian Journal of Pediatrics, March 2018, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  228. A randomized control trial of botulinum toxin A administration under ultrasound guidance against manual palpation in spastic cerebral palsy

    Article • Journal of Pediatric Neurosciences, January 2018, Medknow

    Dr Vykuntaraju K Gowda

  229. Mineralizing angiopathy with basal ganglia stroke after minor trauma: Case series including two familial cases

    Article • Journal of Pediatric Neurosciences, January 2018, Medknow

    Dr Vykuntaraju K Gowda

  230. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings

    Article • The Indian Journal of Pediatrics, November 2017, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  231. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India

    Article • Journal of Tropical Pediatrics, July 2017, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  232. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation

    Article • The Indian Journal of Pediatrics, June 2017, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  233. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene

    Article • The Indian Journal of Pediatrics, January 2017, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  234. Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene

    Article • Journal of Pediatric Neurosciences, January 2017, Medknow

    Dr Vykuntaraju K Gowda

  235. Mucolipidosis type II secondary to GNPTAB gene deletion from India

    Article • Journal of Pediatric Neurosciences, January 2017, Medknow

    Dr Vykuntaraju K Gowda

  236. Sandhoff disease without hepatosplenomegaly due to hexosaminidase B gene mutation

    Article • Journal of Pediatric Neurosciences, January 2017, Medknow

    Dr Vykuntaraju K Gowda

  237. Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis

    Article • Clinical and Experimental Dermatology, December 2016, Oxford University Press (OUP)

    Dr Vykuntaraju K Gowda

  238. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters

    Article • Clinica Chimica Acta, November 2016, Elsevier

    Dr Vykuntaraju K Gowda

  239. A case of Canavan disease with microcephaly

    Article • Brain and Development, September 2016, Elsevier

    Dr Vykuntaraju K Gowda

  240. An initiative to classify different neurological disorder in children using multichannel EEG signals

    Article • May 2016, Institute of Electrical & Electronics Engineers (IEEE)

    Dr Vykuntaraju K Gowda

  241. Research letters

    Article • Indian Pediatrics, March 2016, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  242. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India

    Article • The Indian Journal of Pediatrics, February 2016, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  243. Caregiver-reported health-related quality of life of children with cerebral palsy and their families and its association with gross motor function: A South Indian study

    Article • Journal of Neurosciences in Rural Practice, January 2016, Scientific Scholar

    Dr Vykuntaraju K Gowda

  244. Chromoblastomycosis associated with bone and central nervous involvement system in an immunocompetent child caused by exophiala spinifera

    Article • Indian Journal of Dermatology, January 2016, Medknow

    Dr Vykuntaraju K Gowda

  245. Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas

    Article • Journal of Pediatric Neurosciences, January 2016, Medknow

    Dr Vykuntaraju K Gowda

  246. Correspondence

    Article • Indian Pediatrics, November 2015, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  247. Alternating hemiplegia of childhood during acute episode of gastroenteritis

    Article • Journal of Pediatric Neurology, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  248. Idiopathic intracranial hypertension following measles vaccine

    Article • Journal of Pediatric Neurology, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  249. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis

    Article • Journal of Pediatric Neurology, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  250. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination

    Article • Journal of Pediatric Neurology, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  251. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India

    Article • Journal of Pediatric Neurology, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  252. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child

    Article • Journal of Pediatric Epilepsy, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  253. Aicardi syndrome with type 2b interhemispheric cyst

    Article • Journal of Pediatric Epilepsy, July 2015, IOS Press

    Dr Vykuntaraju K Gowda

  254. Isolated Cerebellitis in Scrub Typhus

    Article • The Indian Journal of Pediatrics, May 2015, Springer Science + Business Media

    Dr Vykuntaraju K Gowda

  255. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus

    Article • The Indian Journal of Pediatrics, February 2015, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  256. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India

    Article • Journal of Pediatric Neurosciences, January 2015, Medknow

    Dr Vykuntaraju K Gowda

  257. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma

    Article • Journal of Pediatric Neurosciences, January 2015, Medknow

    Dr Vykuntaraju K Gowda

  258. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life

    Article • Pediatric Neurology, December 2014, Elsevier

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  259. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs

    Article • Archives of Disease in Childhood, April 2014, BMJ

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  260. Cerebral Palsy and Early Stimulation

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  261. Chapter-01 Introduction

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  262. Chapter-02 History

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  263. Chapter-04 Epidemiology

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  264. Chapter-03 Definition

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda

  265. Chapter-06 Classification

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  266. Chapter-08 Clinical Features

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  267. Chapter-05 Etiology of Cerebral Palsy

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  268. Chapter-09 Diagnosis

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  269. Chapter-10 Cerebral Palsy Management

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  270. Chapter-11 Probability of Walking

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  271. Chapter-13 Prevention of Cerebral Palsy

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  272. Chapter-15 Early Stimulation

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  273. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  274. Chapter-12 Natural History of Cerebral Palsy

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  275. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation

    Article • January 2014, Jaypee Brothers Medical Publishing

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  276. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination

    Article • Journal of Pediatric Neurosciences, January 2014, Medknow

    Dr Vykuntaraju K Gowda

  277. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures

    Article • The Indian Journal of Pediatrics, September 2013, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  278. Correspondence

    Article • Indian Pediatrics, September 2013, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, DR NEERAJ AWASTHY, Dr Vykuntaraju K Gowda

  279. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet

    Article • The Indian Journal of Pediatrics, April 2013, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  280. Parry-Romberg syndrome

    Article • Indian Pediatrics, February 2013, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  281. Incontinentia Pigmenti Presenting as Encephalopathy

    Article • The Indian Journal of Pediatrics, November 2012, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  282. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis

    Article • Pediatric Neurology, November 2012, Elsevier

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  283. Niemann-pick disease type a presenting as unilateral tremors

    Article • Indian Pediatrics, November 2012, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  284. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study

    Article • Epilepsy Research, August 2012, Elsevier

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  285. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study

    Article • Epilepsy Research, September 2011, Elsevier

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  286. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease

    Article • Brain and Development, August 2011, Elsevier

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  287. Thiamine Responsive Megaloblastic Anemia in Three Indian Children

    Article • The Indian Journal of Pediatrics, February 2011, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  288. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures

    Article • Journal of Child Neurology, November 2010, SAGE Publications

    Dr Vykuntaraju K Gowda

  289. Management of Raised Intracranial Pressure

    Article • The Indian Journal of Pediatrics, September 2010, Springer Science + Business Media

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda

  290. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?

    Article • Pediatric Blood & Cancer, June 2010, Wiley

    Dr Vykuntaraju K Gowda, Dr Vykuntaraju K Gowda