All Stories

  1. Truncating Variants in KIF5C Cause a Milder Disorder Distinct from KIF5C-Associated Cortical Dysplasia
  2. 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
  3. CTC1 mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH Infection
  4. Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome
  5. Megalencephalic Leukoencephalopathy Type 2B
  6. Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4
  7. Paediatric myelin oligodendrocyte glycoprotein antibody-associated disease with NMDA receptor encephalitis: overlap syndrome and challenges in the antibody testing
  8. Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination
  9. Clinical Applications and Implications of Neuroimaging
  10. Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene
  11. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts
  12. Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Masquerading as Herpes Simplex Virus Encephalitis
  13. Effectiveness of augmentative alternative communication therapy in children with cerebral palsy with expressive speech delay
  14. A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis
  15. Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation
  16. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply
  17. Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings
  18. Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome
  19. Atypical presentation of mucolipidosis type III
  20. 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
  21. Neuromelanosis masquerading as tubercular bacterial meningitis
  22. Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study
  23. Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India
  24. Glutaric aciduria type-1 in a teenager with nutritional vitamin B12deficiency: coexistence of two treatable conditions
  25. Subacute sclerosing panencephalitis (SSPE) masquerading as acute disseminated encephalomyelitis (ADEM)
  26. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay
  27. Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD)
  28. Expanding the Phenotypic Spectrum of DPH2‐Related Disorder
  29. Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever
  30. Congenital generalised lipodystrophy type 2
  31. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India
  32. Pediatric Onset Multiple Sclerosis (POMS)
  33. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  34. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  35. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  36. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  37. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  38. 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
  39. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  40. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  41. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  42. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  43. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  44. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  45. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  46. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  47. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  48. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  49. 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
  50. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  51. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  52. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  53. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  54. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  55. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  56. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  57. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  58. Neuroimaging Features of Biotinidase Deficiency
  59. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  60. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  61. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  62. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  63. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  64. Case Series of Ethylmalonic Encephalopathy from Southern India
  65. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  66. Infantile Tremor Syndrome Presenting as Stroke
  67. Nonepileptic Paroxysmal Events (NEPE) in Children
  68. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  69. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  70. Etiological Pattern of Movement Disorders in Children
  71. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  72. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  73. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  74. Effectiveness and Safety of Brivaracetam in Children
  75. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  76. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  77. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  78. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  79. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  80. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  81. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  82. Sotos Syndrome Presenting without Gigantism
  83. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  84. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  85. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  86. Report of Two Siblings with Andermann Syndrome
  87. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  88. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  89. Waardenburg Syndrome Type I
  90. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  91. Etiological Evaluation of Global Developmental Delay
  92. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  93. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  94. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  95. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  96. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  97. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  98. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  99. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  100. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  101. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  102. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  103. 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
  104. A case of Canavan disease with microcephaly
  105. An initiative to classify different neurological disorder in children using multichannel EEG signals
  106. Research letters
  107. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  108. Correspondence
  109. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  110. Idiopathic intracranial hypertension following measles vaccine
  111. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  112. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  113. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  114. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  115. Aicardi syndrome with type 2b interhemispheric cyst
  116. Isolated Cerebellitis in Scrub Typhus
  117. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  118. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  119. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  120. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  121. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  122. Cerebral Palsy and Early Stimulation
  123. Chapter-01 Introduction
  124. Chapter-02 History
  125. Chapter-04 Epidemiology
  126. Chapter-03 Definition
  127. Chapter-06 Classification
  128. Chapter-08 Clinical Features
  129. Chapter-05 Etiology of Cerebral Palsy
  130. Chapter-09 Diagnosis
  131. Chapter-10 Cerebral Palsy Management
  132. Chapter-11 Probability of Walking
  133. Chapter-13 Prevention of Cerebral Palsy
  134. Chapter-15 Early Stimulation
  135. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  136. Chapter-12 Natural History of Cerebral Palsy
  137. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  138. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  139. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  140. Correspondence
  141. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  142. Parry-Romberg syndrome
  143. Incontinentia Pigmenti Presenting as Encephalopathy
  144. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  145. Niemann-pick disease type a presenting as unilateral tremors
  146. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  147. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  148. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  149. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  150. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  151. Management of Raised Intracranial Pressure
  152. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?