Article
SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
Journal of neurophysiology - 1 May 2022
Yang Xiao-Ru, Ginjupalli Vamsi Krishna Murthy, Theriault Olivier, Poulin Hugo, Appendino Juan Pablo, Au Ping Yee Billie, Chahine Mohamed
Abstract excerpt
SCN2A encodes a voltage-gated sodium channel (NaV1.2) expressed throughout the central nervous system in predominantly excitatory neurons. Pathogenic variants in SCN2A are associated with epilepsy and neurodevelopmental disorders. Genotype-phenotype correlations have been described, with loss-of-function variants typically being associated with neurodevelopmental delay and later-onset seizures, whereas...
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