Elsevier

Seizure

Volume 25, February 2015, Pages 65-67
Seizure

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

https://doi.org/10.1016/j.seizure.2015.01.003Get rights and content
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Highlights

  • Presence of sudden cardiac death in patients with epilepsy is common.

  • KCNQ1_p.L273F causes familial epilepsy and long QT syndrome.

  • KCNQ1 confer susceptibility for recurrent seizure, increasing the sudden death risk.

Abstract

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 LQT and epilepsy. We performed a direct sequencing analysis of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A genes.

Results

We identified a non-synonymous heterozygous missense pathogenic mutation (p.L273F) in exon 6 of the KCNQ1 gene. All clinically affected relatives carried the same mutation.

Conclusion

We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death.

Abbreviations

LQTS
long QT syndrome
SCD
sudden cardiac death
SUDEP
sudden unexpected death in epilepsy

Keywords

Long QT syndrome
Epilepsy
KCNQ1

Cited by (0)

1

Both authors equally contributed.