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

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

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)65-67
Number of pages3
JournalSeizure
Volume25
DOIs
Publication statusPublished - Feb 1 2015

Fingerprint

Epilepsy
Sudden Death
Mutation
Channelopathies
Missense Mutation
Ion Channels
Fathers
Genes
Exons
Seizures
Phenotype
Brain

Keywords

  • Epilepsy
  • KCNQ1
  • Long QT syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

De Llano, C. T., Campuzano, O., Pérez-Serra, A., Mademont, I., Coll, M., Allegue, C., ... Brugada, R. (2015). Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant. Seizure, 25, 65-67. https://doi.org/10.1016/j.seizure.2015.01.003

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

In: Seizure, Vol. 25, 01.02.2015, p. 65-67.

Research output: Contribution to journalArticle

De Llano, CT, Campuzano, O, Pérez-Serra, A, Mademont, I, Coll, M, Allegue, C, Iglesias, A, Partemi, S, Striano, P, Oliva, A & Brugada, R 2015, 'Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant', Seizure, vol. 25, pp. 65-67. https://doi.org/10.1016/j.seizure.2015.01.003
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. / Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant. In: Seizure. 2015 ; Vol. 25. pp. 65-67.
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AU - Coll, Monica

AU - Allegue, Catarina

AU - Iglesias, Anna

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AB - 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.

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