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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

Abstract：

:An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. The whole exome sequencing showed the de novo heterozygous variant c.1411G > C (p.Val471Leu) in the KCNC2 gene. Although this is, to our knowledge, the first case of encephalopathy associated with a KCNC2 gene variant, and further confirmatory studies are needed, previous preclinical and clinical evidence seems to suggest that KCNC2 is a new candidate epilepsy gene.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

doi

10.1016/j.ejmg.2020.103848

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

103848

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(19)30659-7

journal_volume

63

pub_type

杂志文章

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