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Article

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.

Human mutation - 1 Oct 2018

Baroni Debora, Picco Cristiana, Moran Oscar

Abstract excerpt

Voltage-dependent sodium channels are responsible of the rising phase of the action potential in excitable cells. These integral membrane proteins are composed of a pore-forming α-subunit, and one or more auxiliary β subunits. Mutation p.Asp25Asn (D25N; c.73G > A) of the β1 subunit, coded by the gene SCN1B, has been reported in a patient with generalized epilepsy with febrile seizure plus type 1 (GEFS+). In human...

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PMID: 29992740
DOI: 10.1002/humu.23589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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