All Stories

  1. Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients
  2. Comprehensive Structural MRI Phenotyping in Oligophrenin 1- Related Disorder Reveals Characteristic Brain Malformations
  3. Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
  4. Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
  5. Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India
  6. Truncating Variants in KIF5C Cause a Milder Disorder Distinct from KIF5C-Associated Cortical Dysplasia
  7. Expanding the Phenotype of STAMBP ‐Related Microcephaly‐Capillary Malformation Syndrome
  8. Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine
  9. 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
  10. CTC1 mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH Infection
  11. Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome
  12. Megalencephalic Leukoencephalopathy Type 2B
  13. Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4
  14. Paediatric myelin oligodendrocyte glycoprotein antibody-associated disease with NMDA receptor encephalitis: overlap syndrome and challenges in the antibody testing
  15. Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination
  16. Clinical Applications and Implications of Neuroimaging
  17. Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene
  18. 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
  19. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts
  20. Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India
  21. Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Masquerading as Herpes Simplex Virus Encephalitis
  22. Effectiveness of augmentative alternative communication therapy in children with cerebral palsy with expressive speech delay
  23. A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis
  24. Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation
  25. 362PExploring multisystem involvement in primary mitochondrial disorders: insights from a pediatric cohort from India
  26. 97PFIG4-related neuropediatric phenotypes: rare and multifaceted diagnoses associated with particular protein changes
  27. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply
  28. Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings
  29. Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome
  30. 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
  31. Mucolipidosis III Gamma Masquerading as Juvenile Idiopathic Arthritis
  32. Atypical presentation of mucolipidosis type III
  33. Clinical Profile, Genotype Spectrum, and Outcomes in an Indian Cohort of Patients with Myotonia Congenita
  34. 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
  35. Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes
  36. Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report
  37. HPDL Variant Type Correlates With Clinical Disease Onset and Severity
  38. Neuromelanosis masquerading as tubercular bacterial meningitis
  39. Mass spectrometry analysis of B vitamins in a drop of maternal milk with concern for child health
  40. Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study
  41. Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India
  42. Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India
  43. Glutaric aciduria type-1 in a teenager with nutritional vitamin B12deficiency: coexistence of two treatable conditions
  44. Subacute sclerosing panencephalitis (SSPE) masquerading as acute disseminated encephalomyelitis (ADEM)
  45. Does Recurrent Guillain–Barre Syndrome Exist in Children? A Retrospective Observational study
  46. Pediatric Opsoclonus-Myoclonus Ataxia Syndrome (OMAS) Following Scrub Typhus: A Case Series
  47. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay
  48. Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD)
  49. Expanding the Phenotypic Spectrum of DPH2‐Related Disorder
  50. Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever
  51. Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications–Challenges in Diagnosis and Management
  52. 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
  53. 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
  54. Congenital generalised lipodystrophy type 2
  55. Microbiological Investigations for Chikungunya Virus in Children With Acute Encephalitis Syndrome in a Non‐Outbreak Setting in Southern India
  56. Diagnostic Markers of Severe COVID‐19 and Community‐Acquired Pneumonia in Children From Southern India
  57. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
  58. Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
  59. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
  60. Two Molecular Diagnoses in an Individual with Hailey-Hailey Disease and Genetic Epilepsy with Febrile Seizure Plus
  61. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India
  62. Pediatric Onset Multiple Sclerosis (POMS)
  63. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  64. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
  65. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  66. 316VP What you see is what it is: the tales of two brothers with rare intronic dystrophin gene duplication
  67. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  68. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
  69. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
  70. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
  71. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  72. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  73. 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
  74. Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India
  75. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
  76. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  77. Diagnostic markers of acute encephalitis syndrome and COVID‐associated multisystem inflammatory syndrome in children from Southern India
  78. Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism
  79. Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
  80. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  81. Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children
  82. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  83. Biallelic variation in the choline and ethanolamine transporterFLVCR1underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
  84. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  85. KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
  86. In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population
  87. Comprehensive immunoprofiling of neurodevelopmental disorders suggests three distinct classes based on increased neurogenesis, Th-1 polarization or IL-1 signaling
  88. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  89. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  90. The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
  91. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  92. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  93. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
  94. Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome
  95. Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
  96. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  97. Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
  98. Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
  99. Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation
  100. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
  101. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  102. A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
  103. 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
  104. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  105. Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings
  106. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  107. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
  108. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
  109. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  110. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  111. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  112. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  113. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  114. Association of Scrub Typhus in Children with Acute Encephalitis Syndrome and Meningoencephalitis, Southern India
  115. Etiological Evaluation of Infantile Epileptic Spasms Syndrome (West Syndrome) Based on the New 2017 International League Against Epilepsy Seizure Classification from Southern India
  116. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  117. Neuroimaging Features of Biotinidase Deficiency
  118. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
  119. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
  120. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
  121. Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India
  122. P.24 Consensus and collaboration approach to better defining and implementing harmonised standards of care across a healthcare system: Examples from DMD care
  123. Sleep outcomes in spinal muscular atrophy and role of disease-modifying treatments.
  124. Basal Ganglia Autoimmune Encephalitis Following Leptospirosis
  125. Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy
  126. Profile of Central Nervous System Malformations in Children from a Tertiary Care Center in Southern India
  127. Clinical profile and treatment outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian children
  128. Images
  129. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  130. Prevalence of peripheral neuropathy in children with type 1 diabetes mellitus
  131. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  132. Ceroid Lipofuscinosis in Children: Author's Reply
  133. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
  134. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  135. 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
  136. Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
  137. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  138. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  139. Pattern of Recurrent Pediatric Headache
  140. Profile of Worster Drought Syndrome (WDS)
  141. Case Series of Ethylmalonic Encephalopathy from Southern India
  142. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  143. Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant
  144. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases
  145. Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
  146. Infantile Tremor Syndrome Presenting as Stroke
  147. Clinical and laboratory profile of pediatric metachromatic leukodystrophies in a tertiary care center from Southern Part of India
  148. Thyroid Hormone Transporter Defect
  149. Treatable Neurodegenerative Disorder
  150. Nonepileptic Paroxysmal Events (NEPE) in Children
  151. Krabbe Disease with Normal Enzyme Assay with a Pathogenic Variant in GALC Gene—A Report of Two Indian Cases
  152. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  153. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  154. Etiological Pattern of Movement Disorders in Children
  155. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  156. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  157. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  158. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype
  159. Effectiveness and Safety of Brivaracetam in Children
  160. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  161. Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance
  162. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  163. Acute flaccid myelitis: cause, diagnosis, and management
  164. Alpha-mannosidosis from India due to a novel pathogenic variant in MAN2B1 gene
  165. Anti-NMDAR encephalitis presenting as stroke-like episodes in children: A case series from a tertiary care referral centre from Southern India
  166. Case series of early SCN1A-related developmental and epileptic encephalopathies
  167. Familial global developmental delay secondary to β-mannosidosis
  168. Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene
  169. Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
  170. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  171. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  172. A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis
  173. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  174. Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
  175. CASPR2-Mediated Autoimmune Encephalitis in a Toddler
  176. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  177. Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy
  178. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  179. Sotos Syndrome Presenting without Gigantism
  180. Seropositive Anti-NMDAR Mediated Autoimmune Encephalitis
  181. KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases
  182. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  183. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  184. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  185. Report of Two Siblings with Andermann Syndrome
  186. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  187. Epidemiology of Congenital Rubella Syndrome (CRS) in India, 2016-18, based on data from sentinel surveillance
  188. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  189. Waardenburg Syndrome Type I
  190. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  191. Levetiracetam versus fosphenytoin in pediatric convulsive status epilepticus: A randomized controlled trial
  192. Macrophagic myofasciitis: A report of two south Indian infants
  193. Osteoporosis pseudoglioma syndrome
  194. Spectrum of Nonepileptic Paroxysmal Events in Children from Southern India
  195. Correspondence
  196. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA): Correspondence
  197. Etiological Evaluation of Global Developmental Delay
  198. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  199. Levetiracetam versus Phenobarbitone in Neonatal Seizures — A Randomized Controlled Trial
  200. 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
  201. Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome
  202. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
  203. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  204. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  205. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  206. Clinical and radiological profiles, treatment, and outcome of pediatric acquired demyelinating disorders of central nervous system
  207. Etiological profile of afebrile seizures in infants in a tertiary care center from southern India
  208. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  209. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  210. Fazio-Londe syndrome in siblings from India with different phenotypes
  211. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  212. Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation
  213. A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1
  214. A randomized control trial of botulinum toxin A administration under ultrasound guidance against manual palpation in spastic cerebral palsy
  215. Mineralizing angiopathy with basal ganglia stroke after minor trauma: Case series including two familial cases
  216. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  217. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  218. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  219. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  220. Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene
  221. Mucolipidosis type II secondary to GNPTAB gene deletion from India
  222. Sandhoff disease without hepatosplenomegaly due to hexosaminidase B gene mutation
  223. 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
  224. A case of Canavan disease with microcephaly
  225. An initiative to classify different neurological disorder in children using multichannel EEG signals
  226. Research letters
  227. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  228. 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
  229. Chromoblastomycosis associated with bone and central nervous involvement system in an immunocompetent child caused by exophiala spinifera
  230. Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas
  231. Correspondence
  232. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  233. Idiopathic intracranial hypertension following measles vaccine
  234. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  235. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  236. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  237. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  238. Aicardi syndrome with type 2b interhemispheric cyst
  239. Isolated Cerebellitis in Scrub Typhus
  240. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  241. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  242. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  243. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  244. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  245. Cerebral Palsy and Early Stimulation
  246. Chapter-01 Introduction
  247. Chapter-02 History
  248. Chapter-04 Epidemiology
  249. Chapter-03 Definition
  250. Chapter-06 Classification
  251. Chapter-08 Clinical Features
  252. Chapter-05 Etiology of Cerebral Palsy
  253. Chapter-09 Diagnosis
  254. Chapter-10 Cerebral Palsy Management
  255. Chapter-11 Probability of Walking
  256. Chapter-13 Prevention of Cerebral Palsy
  257. Chapter-15 Early Stimulation
  258. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  259. Chapter-12 Natural History of Cerebral Palsy
  260. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  261. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  262. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  263. Correspondence
  264. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  265. Parry-Romberg syndrome
  266. Incontinentia Pigmenti Presenting as Encephalopathy
  267. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  268. Niemann-pick disease type a presenting as unilateral tremors
  269. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  270. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  271. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  272. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  273. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  274. Management of Raised Intracranial Pressure
  275. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?