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 -