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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

Abstract：

:The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive patients revealed among a cohort of 80 epileptic pediatric probands from Spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes. This work shows for the first time the association between KCNQ2 mutations and startle attacks in 38% of patients, which opens the possibility to define electroclinical phenotypes associated to KCNQ2 mutations. It also demonstrates that KCNQ2 mutations contribute to an important percentage of Spanish patients with epilepsy. The study confirm the high genetic heterogeneity of this gene with 13 different mutations found, 10 of them novel and the better outcome of patients treated with sodium channel blockers.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Hortigüela M,Fernández-Marmiesse A,Cantarín V,Gouveia S,García-Peñas JJ,Fons C,Armstrong J,Barrios D,Díaz-Flores F,Tirado P,Couce ML,Gutiérrez-Solana LG

doi

10.1038/jhg.2016.104

subject

Has Abstract

pub_date

2017-02-01 00:00:00

pages

185-189

issue

2

eissn

1434-5161

issn

1435-232X

pii

jhg2016104

journal_volume

62

pub_type

杂志文章

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