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Article

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

Seizure - 1 Feb 2015

Tiron Coloma, de Llano Coloma Tiron, Campuzano Oscar, Pérez-Serra Alexandra, Mademont Irene, Coll Monica, Allegue Catarina, Iglesias Anna, Partemi Sara, Striano Pasquale, Oliva Antonio, Brugada Ramon

Abstract excerpt

PURPOSE: Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family. METHODS: We assessed a family showing epilepsy concomitant with LQTS. Index case showed prolonged QT interval. His father suffers of...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to KCNQ1 Potassium Channel

Share to Long QT Syndrome

Share to Mutation, Missense

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Source

Identifiers

PMID: 25645639
DOI: 10.1016/j.seizure.2015.01.003

Genes

KCNQ1
KCNH2

Provenance

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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