Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental and Epileptic Encephalopathy (DEE). Thus, understanding the...

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Bibliographic Details
Main Authors: Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Pharmacology
Subjects:
alternative splicing
Kv7.2 subunits
epileptic encephalopathy
PIP2
calmodulin
KCNQ2
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2022.872645/full

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https://www.frontiersin.org/articles/10.3389/fphar.2022.872645/full

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