Tehran University of Medical Sciences

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Faculty Members have conducted research related to the Molecular and Clinical Characterization of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (Apeced) in Iranian Non-Jewish Patients: Report of Two Novel Aire Gene Pathogenic Variants
Reza Shervin Badv
Reza Shervin Badv

Associate Professor of Pediatric Neurology

Department Pediatrics

School of Medicine

Childrens Medical Center

Tehran University of Medical Sciences

All Documents
1. Clinical and Genetic Characterization of a Progressive Rbl2-Associated Neurodevelopmental Disorder, Brain (2025)
2. Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature, Iranian Journal of Child Neurology (2025)
3. Reevaluation of the Impact of the Novel Likely Pathogenic Variant C.1286_1288Delaga in the Atp8a2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and Acmg Insights in an Iranian Family, Molecular Genetics and Genomic Medicine (2025)
4. A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy, Egyptian Journal of Medical Human Genetics (2024)
5. A Comprehensive Study of Mutation and Phenotypic Heterogeneity of Childhood Mitochondrial Leukodystrophies, Brain and Development (2024)
6. Comparative Efficacy of Risdiplam and Nusinersen in Type 2 and 3 Spinal Muscular Atrophy Patients: A Cohort Study Using Real-World Data, Journal of neuromuscular diseases (2024)
7. Comparative Efficacy of Risdiplam and Nusinersen in Type 2 and 3 Spinal Muscular Atrophy Patients: A Cohort Study Using Real-World Data, Journal of neuromuscular diseases (2024)
8. Effectiveness of Electronic Learning Courses on Neurologist Knowledge of Epilepsy Classification: A Study Based on the Kirkpatrick Model, Jundishapur Journal of Chronic Disease Care (2024)
9. Homozygous Variants in Wdr83os Lead to a Neurodevelopmental Disorder With Hypercholanemia, American Journal of Human Genetics (2024)
10. Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency Due to a Variant in Hadha Gene, Iranian Journal of Pathology (2024)
11. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
12. Associations Between Symptom Severity of Autism Spectrum Disorder and Screen Time Among Toddlers Aged 16 to 36 Months, Behavioral Sciences (2023)
13. Biallelic Variants in Ogdh Encoding Oxoglutarate Dehydrogenase Lead to a Neurodevelopmental Disorder Characterized by Global Developmental Delay, Movement Disorder, and Metabolic Abnormalities, Genetics in Medicine (2023)
14. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: An Iranian Case Series Expanding the Genetic and Neuroimaging Spectra, Cerebellum (2023)
15. Colq-Related Congenital Myasthenic Syndrome: An Integrative View, Neurogenetics (2023)
16. Common Coronavirus Disease 2019 Upper Respiratory Tract Sampling Techniques in Children, Journal of Iranian Medical Council (2023)
17. Correction To: High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry (Neurogenetics, (2023), 24, 4, (279-289), 10.1007/S10048-023-00730-Y), Neurogenetics (2023)
18. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
19. Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study, Archives of Iranian Medicine (2023)
20. Neuropsychiatric Manifestations of Covid-19 in Hospitalized Pediatrics: A Multicenter Cross-Sectional Study, Archives of Pediatric Infectious Diseases (2023)
21. Neuropsychiatric Manifestations of Covid-19 in Hospitalized Pediatrics: A Multicenter Cross-Sectional Study, Archives of Pediatric Infectious Diseases (2023)
22. Non-Invasive Electrical Source Imaging for Localizing Epileptiform Discharges in Children With Focal Epilepsy Based on Developing Country’S Limitations, Iranian Journal of Pediatrics (2023)
23. Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children’S Medical Center, Iranian Journal of Pediatrics (2023)
24. Sexual Dimorphism in Telomere Length in Childhood Autism, Journal of Autism and Developmental Disorders (2023)
25. The Agreement Between Long-Term Monitoring by Electroencephalography and Magnetic Resonance Imaging in Paediatric Seizure, Iranian Journal of Pediatrics (2023)
26. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
27. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
28. Virtual and In-Person Electroencephalography (Eeg) Training Among Pediatric and Adult Neurology Residents During the Covid-19 Pandemic, Iranian Journal of Pediatrics (2023)
29. An Open-Label Phase 1 Clinical Trial of the Allogeneic Side Population Adipose-Derived Mesenchymal Stem Cells in Sma Type 1 Patients, Neurological Sciences (2022)
30. Cep104 Gene May Involve in the Pathogenesis of a New Developmental Disorder Other Than Joubert Syndrome, Molecular Biology Reports (2022)
31. Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular Dystrophy, BMC Neurology (2022)
32. Differentiating Post–Digital Nannying Autism Syndrome From Autism Spectrum Disorders in Young Children: A Comparative Cross-Sectional Study, Journal of Clinical Medicine (2022)
33. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the Adck3 Gene and Poor Response to Therapy, Journal of Molecular Neuroscience (2022)
34. Exploring the Genetic Etiology of Drug-Resistant Epilepsy: Incorporation of Exome Sequencing Into Practice, Acta Neurologica Belgica (2022)
35. Identification of Micrornas Associated With Human Fragile X Syndrome Using Next-Generation Sequencing, Scientific Reports (2022)
36. Mitochondrial Neurogastrointestinal Encephalopathy (Mngie) Disease, Archives of Iranian Medicine (2022)
37. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
38. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression), Human Mutation (2022)
39. Patterns of Antiepileptic Drug Reactions in Children: A Multicenter Study, Iranian Journal of Child Neurology (2022)
40. Sars-Cov-2 Transmission Among Healthcare Workers in Iran: An Urgent Need for Early Identification and Management, Infectious Disorders - Drug Targets (2022)
41. The Efficacy of the Ketogenic Diet in Improving Seizures and Eeg Findings in Patients With Refractory Infantile Spasms, Iranian Journal of Child Neurology (2022)
42. The Quality of Life in Children With Spinal Muscular Atrophy: A Case–Control Study, BMC Pediatrics (2022)
43. The Safety and Efficacy of Umbilical Cord Blood Mononuclear Cells in Individuals With Spastic Cerebral Palsy: A Randomized Double-Blind Sham-Controlled Clinical Trial, BMC Neurology (2022)
44. Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation, Clinical Case Reports (2021)
45. Clinical and Imaging Outcomes After Intrathecal Injection of Umbilical Cord Tissue Mesenchymal Stem Cells in Cerebral Palsy: A Randomized Double-Blind Sham-Controlled Clinical Trial, Stem Cell Research and Therapy (2021)
46. Clinical and Paraclinical Screening for Celiac Disease in Children With Intractable Epilepsy, Neurology Research International (2021)
47. Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience From Iran, Journal of Child Science (2021)
48. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review, Developmental Neuroscience (2021)
49. Novel Disease-Causing Variants in a Cohort of Iranian Patients With Metachromatic Leukodystrophy and in Silico Analysis of Their Pathogenicity, Clinical Neurology and Neurosurgery (2021)
50. Physicians’ Opinions on the Necessity of Covid-19 Vaccination in Patients With Epilepsy, Epileptic Disorders (2021)
51. The First Febrile Seizure; Predisposing Factors and Recurrence Rate, Iranian Journal of Child Neurology (2021)
52. A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Masquerading As an Intractable Seizure, Annals of Pediatric Cardiology (2020)
53. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barre Syndrome Among the Pediatric Population, Journal of Child Neurology (2020)
54. Clonidine Versus Chloral Hydrate for Recording Sleep Eeg in Children, Iranian Journal of Child Neurology (2020)
55. Coronavirus, Its Neurologic Manifestations, and Complications, Iranian Journal of Pediatrics (2020)
56. Does the Vitamin D Deficiency Have Any Role in Severity or Prolongation of Seizure? a Pilot Study in Iran, Current Nutrition and Food Science (2020)
57. Dystonia in Ataxia Telangiectasia: A Case Report With Novel Mutations, Oman Medical Journal (2020)
58. The Coronavirus Disease 2019 (Covid-19) in Children: A Study in an Iranian Children’S Referral Hospital, Infection and Drug Resistance (2020)
59. The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations, Journal of Molecular Neuroscience (2020)
60. We Need Well-Designed Multicenter Studies to Investigate Neurologic Manifestations of Coronavirus Disease 2019, Current Journal of Neurology (2020)
61. A Clinical Trial Evaluating the Safety and Efficiency of Cerebrolysin in Children With Autism Spectrum Disorders, Iranian Journal of Pediatrics (2019)
62. A Comparison of Conventional Electroencephalography With Amplitude-Integrated Eeg in Detection of Neonatal Seizures, Medical Devices: Evidence and Research (2019)
63. A Novel Case Report of Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy From Iran, International Medical Case Reports Journal (2019)
64. A Rare Cytogenetic Variant of Monosomy 18P Syndrome As a Consequence of Whole-Arm Translocation Between Chromosomes 13 and 18, Archives of Iranian medicine (2019)
65. Hemi-Eses Associated With Agenesis of the Corpus Callosum and Normal Cognition, Epilepsy and Behavior Case Reports (2019)
66. Impacts of the International Economic Sanctions on Iranian Patients With Epilepsy, Epilepsy and Behavior (2019)
67. Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(S) in Fifty Iranian Patients With Multiple Congenital Anomalies, Cell Journal (2019)
68. Levetiracetam for Prophylactic Treatment of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2019)
69. Short-Term and Long-Term Efficacy of Classical Ketogenic Diet and Modified Atkins Diet in Children and Adolescents With Epilepsy: A Systematic Review and Meta-Analysis, Nutritional Neuroscience (2019)
70. The Impact of Manual Ability Level on Participation of Children With Cerebral Palsy in Life Areas: A Cross-Sectional Study, Iranian Journal of Child Neurology (2019)
71. Efficacy of Low Glycemic Index Treatment in Epileptic Patients: A Systematic Review, Acta Neurologica Belgica (2018)
72. Impact of Hematopoietic Stem Cell Transplant on Vep and Abr Values of the Patients With Malignant Infantile Osteopetrosis, European Journal of Paediatric Neurology (2018)
73. Pathogenic Significance of Scn1a Splicing Variants Causing Dravet Syndrome: Improving Diagnosis With Targeted Sequencing for Variants by in Silico Analysis, Clinical Neurology and Neurosurgery (2018)
74. The Effect of Sodium Valproate on Urinary Frequency and Enuresis Compared to Carbamazepine in Children With Epilepsy, Iranian Journal of Pediatrics (2018)
75. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System, Journal of Child Neurology (2018)
76. Association of the Single Nucleotide Polymorphisms of the Genes Encoding Il-2 and Ifn-Γ With Febrile Seizure, Acta Medica Iranica (2017)
77. Does Parent Report Gross Motor Function Level of Cerebral Palsy Children Impact on the Quality of Life in These Children?, Iranian Journal of Child Neurology (2017)
78. Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review, Brain and Development (2017)
79. The Efficacy of the Ketogenic Diet in Infants and Young Children With Refractory Epilepsies Using a Formula-Based Powder, Acta Neurologica Belgica (2017)
80. The Influence of Ketogenic Diet on Liver Function in Children and Adolescents With Intractable Epilepsy, Journal of Comprehensive Pediatrics (2017)
81. Efficacy of Potassium Bromide (As an Out-Of-Date Drug) in Epilepsia Partialis Continua: A Brief Report, Iranian Journal of Pediatrics (2016)
82. Selection of Suitable Reference Genes for Analysis of Salivary Transcriptome in Non-Syndromic Autistic Male Children, International Journal of Molecular Sciences (2016)
83. The Effects of Classic Ketogenic Diet on Serum Lipid Profile in Children With Refractory Seizures, Acta Neurologica Belgica (2016)
84. The Quality of Life in Boys With Duchenne Muscular Dystrophy, Neuromuscular Disorders (2016)
85. General Movements As a Predictive Tool of the Neurological Outcome in Term Born Infants With Hypoxic Ischemic Encephalopathy, Early Human Development (2015)
86. Single Nucleotide Polymorphisms of Tnf-A Gene in Febrile Seizures, Journal of the Neurological Sciences (2015)