Mutations in KCNT1 cause a spectrum of focal epilepsies.

doi:10.1111/epi.13071

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Article

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Epilepsia - 1 Sept 2015

Møller Rikke S, Heron Sarah E, Larsen Line H G, Lim Chiao Xin, Ricos Michael G, Bayly Marta A, van Kempen Marjan J A, Klinkenberg Sylvia, Andrews Ian, Kelley Kent, Ronen Gabriel M, Callen David, McMahon Jacinta M, Yendle Simone C, Carvill Gemma L, Mefford Heather C, Nabbout Rima, Poduri Annapurna, Striano Pasquale, Baglietto Maria G, Zara Federico, Smith Nicholas J, Pridmore Clair, Gardella Elena, Nikanorova Marina, Dahl Hans Atli, Gellert Pia, Scheffer Ingrid E, Gunning Boudewijn, Kragh-Olsen Bente, Dibbens Leanne M

Abstract excerpt

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the...

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Identifiers

PMID: 26122718
DOI: 10.1111/epi.13071
PMCID: PMC5915334

Genes

KCNT1

Variants

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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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