De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Abstract Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been correlated with variants in ion channel genes. In this...

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Bibliographic Details
Main Authors: Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Molecular Brain
Subjects:
Ion channels
Channelopathy
Calcium channel
CACNA1H
Cav3.2 channel
Sodium channel
Online Access:https://doi.org/10.1186/s13041-021-00838-y

Internet

https://doi.org/10.1186/s13041-021-00838-y

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