Associated Papers
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 2022
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
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