Disease: Ohtahara syndrome
- <em>SCN2A</em>-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
- A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy
- A Rare Presentation Characterized by Epileptic Spasms in <em>ALDH7A1</em>, Pyridox(am)ine-5'-Phosphate Oxidase, and <em>PLPBP</em> Deficiency
- Approaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy
- ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet
- ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients
- Case report: A novel <em>STXBP1</em> splice variant and the landscape of splicing-involved <em>STXBP1</em>-related disorders
- Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene
- Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene
- Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy
- Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report
- Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet
- Early Surgery for Ohtahara Syndrome Associated With Cortical Dysplasia
- Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra
- Epileptic encephalopathies of onset in neonates and infants
- Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A
- Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene
- Genotype and phenotype spectrum of 10 children with <em>STXBP1</em> gene-related encephalopathy and epilepsy
- Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome
- Human Adenovirus Infection Causing Hyperinflammatory Syndrome Mimicking Multisystem Inflammatory Syndrome in Children (MIS-C): A Case Report
- Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
- Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the <em>MOCS2</em> Gene
- Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy
- Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
- Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations
- Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity
- Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy
- Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5'-Phosphate
- Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations
- SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs
- SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
- The anesthetic management of a child with ohtahara syndrome and severe stridor: a case report
- Type 1 early infantile epileptic encephalopathy: A case report and literature review