All Stories

  1. Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family
  2. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum
  3. Cinnarizine and sodium valproate as the preventive agents of pediatric migraine: A randomized double-blind placebo-controlled trial
  4. Persistent dystonia and basal ganglia involvement following metronidazole induced encephalopathy
  5. Deep brain stimulation in status dystonicus caused by anti-NMDA receptor encephalitis
  6. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant
  7. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review
  8. An Asymptomatic Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts
  9. Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial
  10. Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients
  11. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
  12. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis
  13. The Efficacy of Cerebrolysin in Improvement of Spasticity in Children with Cerebral Palsy: A Clinical Trial
  14. Incidence of childhood leukodystrophies
  15. Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review
  16. Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management
  17. The efficacy of the ketogenic diet in infants and young children with refractory epilepsies using a formula-based powder
  18. Alexander Disease
  19. The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures
  20. Pharmacogenetic Study on the Impact of Rivastigmine Concerning Genetic Variants of A2M and IL-6 Genes on Iranian Alzheimer’s Patients
  21. Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3
  22. Efficacy and Safety of Cinnarizine in the Prophylaxis of Migraine in Children: A Double-Blind Placebo-Controlled Randomized Trial
  23. Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI
  24. Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C