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Article

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Annals of neurology - 1 Jun 2018

Ambrosino Paolo, Soldovieri Maria Virginia, Bast Thomas, Turnpenny Peter D, Uhrig Sabine, Biskup Saskia, Döcker Miriam, Fleck Thilo, Mosca Ilaria, Manocchio Laura, Iraci Nunzio, Taglialatela Maurizio, Lemke Johannes R

Abstract excerpt

Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report on 2 females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome or with DEE with migrating focal seizures. After in vitro analysis suggested quinidine-responsive gain-of-function effects, we treated 1 of the girls with quinidine add-on therapy and achieved...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29740868
DOI: 10.1002/ana.25248

Genes

KCNT2
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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De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.PMID 29740868Read ↗

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