Literature Review

SCN8A Mutations Linked to Epilepsy Variants and Developmental Delay

An analysis of 275 test panels suggests the gene plays a complex role in multiple neurological disorders.


 

Pathogenic variants of the SCN8A gene may contribute to a variety of epilepsy types, as well as nonseizure neurodevelopmental disorders, according a recent genetic analysis. Five variants of the gene called sodium channel alpha subunit 8, which codes for the ion pore region of the voltage-gated sodium channel, were detected in the genetic sequencing data from 275 epilepsy panels performed by the Emory Genetics Laboratory. Four of the 5 affected individuals had epilepsy and developmental delay/intellectual disability. The fifth patient had a less severe form of epilepsy that did not impair their cognitive abilities.

Butler KM, da Silva C, Shafir Y et al. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2016;129:17-25.

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