Article
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
Clinical genetics - 1 Jan 2017
Thuresson A-C, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C
Abstract excerpt
Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to...
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