Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Abstract Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channe...

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Bibliographic Details
Main Authors: Ivana A. Souza, Maria A. Gandini, Fang-Xiong Zhang, Wendy G. Mitchell, Joyce Matsumoto, Jason Lerner, Tyler Mark Pierson, Gerald W. Zamponi
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Molecular Brain
Subjects:
Cav3.2
T-type
Epilepsy
Seizure
Mutation
Online Access:http://link.springer.com/article/10.1186/s13041-019-0509-5

Internet

http://link.springer.com/article/10.1186/s13041-019-0509-5

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