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

Luigi Vetri; Francesco Calì; Mirella Vinci; Carmelo Amato; Michele Roccella; Tiziana Granata; Elena Freri; Roberta Solazzi; Valentino Romano; Maurizio Elia

doi:10.1016/j.ejmg.2020.103848

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

Luigi Vetri, Francesco Calì, Mirella Vinci, Carmelo Amato, Michele Roccella, Tiziana Granata, Elena Freri, Roberta Solazzi, Valentino Romano, Maurizio Elia

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	103848
Journal	European Journal of Medical Genetics
DOIs	https://doi.org/10.1016/j.ejmg.2020.103848
Publication status	Accepted/In press - Jan 1 2020

Keywords

Developmental and epileptic encephalopathies
EEG
Exome
KCNC2
Kv3.2
NGS

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1016/j.ejmg.2020.103848

Cite this

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy. / Vetri, Luigi; Calì, Francesco ; Vinci, Mirella; Amato, Carmelo; Roccella, Michele; Granata, Tiziana; Freri, Elena; Solazzi, Roberta; Romano, Valentino; Elia, Maurizio.

In: European Journal of Medical Genetics, 01.01.2020.

Research output: Contribution to journal › Article › peer-review

@article{07dbc75349da47e8b985c2a9fced7626,

title = "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.",

keywords = "Developmental and epileptic encephalopathies, EEG, Exome, KCNC2, Kv3.2, NGS",

author = "Luigi Vetri and Francesco Cal{\`i} and Mirella Vinci and Carmelo Amato and Michele Roccella and Tiziana Granata and Elena Freri and Roberta Solazzi and Valentino Romano and Maurizio Elia",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/j.ejmg.2020.103848",

language = "English",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

}

TY - JOUR

T1 - A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

AU - Vetri, Luigi

AU - Calì, Francesco

AU - Vinci, Mirella

AU - Amato, Carmelo

AU - Roccella, Michele

AU - Granata, Tiziana

AU - Freri, Elena

AU - Solazzi, Roberta

AU - Romano, Valentino

AU - Elia, Maurizio

PY - 2020/1/1

Y1 - 2020/1/1

N2 - 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.

AB - 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.

KW - Developmental and epileptic encephalopathies

KW - EEG

KW - Exome

KW - KCNC2

KW - Kv3.2

KW - NGS

UR - http://www.scopus.com/inward/record.url?scp=85078776867&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85078776867&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2020.103848

DO - 10.1016/j.ejmg.2020.103848

M3 - Article

C2 - 31972370

AN - SCOPUS:85078776867

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

M1 - 103848

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this