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)

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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

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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.",

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AU - Vinci, Mirella

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AU - Roccella, Michele

AU - Granata, Tiziana

AU - Freri, Elena

AU - Solazzi, Roberta

AU - Romano, Valentino

AU - Elia, Maurizio

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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.

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