2. Academic Validation
  3. A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

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

  • Eur J Med Genet. 2020 Apr;63(4):103848. doi: 10.1016/j.ejmg.2020.103848.
Luigi Vetri 1,  Francesco Calì 2,  Mirella Vinci 2,  Carmelo Amato 2,  Michele Roccella 3,  Tiziana Granata 4,  Elena Freri 4,  Roberta Solazzi 4,  Valentino Romano 5,  Maurizio Elia 6
Affiliations

Affiliations

  • 1 Oasi Research Institute-IRCCS, Troina, Italy; Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo, Italy.
  • 2 Oasi Research Institute-IRCCS, Troina, Italy.
  • 3 Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo, Italy; Department of Psychology, Educational Science and Human Movement, University of Palermo, Palermo, Italy.
  • 4 Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • 5 Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.
  • 6 Oasi Research Institute-IRCCS, Troina, Italy. Electronic address: [email protected].
PMID: 31972370 DOI: 10.1016/j.ejmg.2020.103848
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.

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