Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising
from largely unknown cellular and molecular mechanisms. In generalized epilepsy with …

Evaluation of candidate loci culminated in the identification of a heterozygous missense
mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, …

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α 1 subunit
(Na V 1.1), are associated with at least two forms of epilepsy, generalized epilepsy with …

KCNE1 is a single-span membrane protein that modulates the voltage-gated potassium
channel KCNQ1 (K V 7.1) by slowing activation and enhancing channel conductance to …

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α 1 subunit
(Na V 1.1), are associated with at least two forms of epilepsy, generalized epilepsy with …

Heterozygous loss-of-function SCN1A mutations cause Dravet syndrome, an epileptic
encephalopathy of infancy that exhibits variable clinical severity. We utilized a heterozygous …

Objective Numerous studies have demonstrated increased load of de novo copy number
variants or single nucleotide variants in individuals with neurodevelopmental disorders, …

Voltage-gated potassium (K V ) channels are modulated by at least three distinct classes of
proteins including the KCNE family of single transmembrane accessory subunits. In the …

Background: The explosive growth in known human gene variation presents enormous
challenges to current approaches for variant classification that have implications for diagnosis …

Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV
7.2 are associated with early onset epilepsy and/or developmental disability, but the …