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Seizure. 2015 Feb;25:65-7. doi: 10.1016/j.seizure.2015.01.003. Epub 2015 Jan 9.

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

Author information

1
Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiology Department, Hospital of Palamós, Palamós, Spain.
2
Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
3
Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
4
Institute of Public Health Section of Legal Medicine, School of Medicine, Catholic University, Rome, Italy.
5
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, "G. Gaslini" Institute, Genova, Italy.
6
Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain. Electronic address: ramon@brugada.org.

Erratum in

  • Seizure. 2015 Aug;30:136. de Llano, Coloma Tiron [corrected to Tiron, Coloma].

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.

KEYWORDS:

Epilepsy; KCNQ1; Long QT syndrome

PMID:
25645639
DOI:
10.1016/j.seizure.2015.01.003
[Indexed for MEDLINE]
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