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KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review.

Epileptic disorders : international epilepsy journal with videotape - 1 Aug 2023

Zhou Yu, Hao Nanya, Sander Josemir W, Lin Xu, Xiong Weixi, Zhou Dong

Abstract excerpt

OBJECTIVE: Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are common causes of epilepsy. The Arg 744* variant of KCNH2 has been previously reported in people with epilepsy or LQTS, but none of these patients were reported to simultaneously suffer from epilepsy and LQTS. Herein, we report the case of a family with epilepsy and cardiac disorders. METHOD: The proband, a 25-year-old...

Topics

Female
Humans
ERG1 Potassium Channel
Channelopathies
KCNQ1 Potassium Channel
Epilepsy
Long QT Syndrome
Seizures
Anticonvulsants
Syncope
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Electrocardiography

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Identifiers

PMID: 36946251
DOI: 10.1002/epd2.20046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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