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Article

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

European journal of medical genetics - 1 Apr 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 31972370
DOI: 10.1016/j.ejmg.2020.103848

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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