De novo Y1460C missense variant in Na_V1.1 impedes the pore region and results in epileptic encephalopathy.

ABSTRACT: Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. SCN1A encodes Na_V1.1, a neuronal voltage-gated Na⁺ channel that is highly expressed throughout the central nervous system. Na_V1.1 is localized within the axon initial segment where it plays a critical role in the initiation and propagation of action potentials and neuronal firing, predominantly in γ-amino-butyric-acid (GABA)ergic neurons of the hippocampus. The objective of this study was to characterize a de novo missense variant of uncertain significance in the SCN1A gene of a proband presented with febrile status epilepticus characterized by generalized tonic clonic movements associated with ictal emesis and an abnormal breathing pattern. Screening a gene panel rev

SUBMITTER: Plumereau Q 

PROVIDER: S-EPMC9561119 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature