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 journalArticle

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 languageEnglish
Article number103848
JournalEuropean Journal of Medical Genetics
DOIs
Publication statusAccepted/In press - Jan 1 2020

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Keywords

  • Developmental and epileptic encephalopathies
  • EEG
  • Exome
  • KCNC2
  • Kv3.2
  • NGS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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