Associated Papers
Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases.
Thai HBD et al.
Clinical and Experimental Pediatrics, 2025
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT et al.
Brain : a Journal of Neurology, 2024
38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
Melikishvili G et al.
Epilepsy & Behavior : E&b, 2020
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Bruun TUJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M et al.
Brain : a Journal of Neurology, 2017
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
Dilena R et al.
Brain & Development, 2017
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
Gokben S et al.
Acta Neurologica Belgica, 2017
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