All Stories

  1. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  2. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  3. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  4. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  5. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  6. 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
  7. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  8. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  9. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  10. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  11. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  12. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  13. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  14. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  15. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  16. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  17. 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
  18. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  19. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  20. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  21. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  22. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  23. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  24. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  25. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  26. Neuroimaging Features of Biotinidase Deficiency
  27. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  28. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  29. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  30. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  31. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  32. Case Series of Ethylmalonic Encephalopathy from Southern India
  33. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  34. Infantile Tremor Syndrome Presenting as Stroke
  35. Nonepileptic Paroxysmal Events (NEPE) in Children
  36. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  37. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  38. Etiological Pattern of Movement Disorders in Children
  39. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  40. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  41. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  42. Effectiveness and Safety of Brivaracetam in Children
  43. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  44. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  45. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  46. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  47. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  48. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  49. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  50. Sotos Syndrome Presenting without Gigantism
  51. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  52. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  53. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  54. Report of Two Siblings with Andermann Syndrome
  55. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  56. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  57. Waardenburg Syndrome Type I
  58. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  59. Etiological Evaluation of Global Developmental Delay
  60. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  61. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  62. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  63. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  64. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  65. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  66. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  67. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  68. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  69. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  70. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  71. 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
  72. A case of Canavan disease with microcephaly
  73. An initiative to classify different neurological disorder in children using multichannel EEG signals
  74. Research letters
  75. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  76. Correspondence
  77. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  78. Idiopathic intracranial hypertension following measles vaccine
  79. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  80. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  81. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  82. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  83. Aicardi syndrome with type 2b interhemispheric cyst
  84. Isolated Cerebellitis in Scrub Typhus
  85. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  86. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  87. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  88. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  89. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  90. Cerebral Palsy and Early Stimulation
  91. Chapter-01 Introduction
  92. Chapter-02 History
  93. Chapter-04 Epidemiology
  94. Chapter-03 Definition
  95. Chapter-06 Classification
  96. Chapter-08 Clinical Features
  97. Chapter-05 Etiology of Cerebral Palsy
  98. Chapter-09 Diagnosis
  99. Chapter-10 Cerebral Palsy Management
  100. Chapter-11 Probability of Walking
  101. Chapter-13 Prevention of Cerebral Palsy
  102. Chapter-15 Early Stimulation
  103. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  104. Chapter-12 Natural History of Cerebral Palsy
  105. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  106. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  107. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  108. Correspondence
  109. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  110. Parry-Romberg syndrome
  111. Incontinentia Pigmenti Presenting as Encephalopathy
  112. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  113. Niemann-pick disease type a presenting as unilateral tremors
  114. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  115. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  116. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  117. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  118. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  119. Management of Raised Intracranial Pressure
  120. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?