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Article

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

Annals of neurology - 1 Apr 2014

Milligan Carol J, Li Melody, Gazina Elena V, Heron Sarah E, Nair Umesh, Trager Chantel, Reid Christopher A, Venkat Anu, Younkin Donald P, Dlugos Dennis J, Petrovski Slavé, Goldstein David B, Dibbens Leanne M, Scheffer Ingrid E, Berkovic Samuel F, Petrou Steven

Abstract excerpt

OBJECTIVE: Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures (EIMFS). More recently, a whole exome sequencing study of epileptic encephalopathies identified an additional de novo mutation in 1 proband with EIMFS. We aim to investigate the electrophysiological and pharmacological characteristics of hKCNT1...

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Source

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Identifiers

PMID: 24591078
DOI: 10.1002/ana.24128
PMCID: PMC4158617

Genes

KCNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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