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

Souza, Ivana A; Gandini, Maria A; Zhang, Fang-Xiong; Mitchell, Wendy G; Matsumoto, Joyce; Lerner, Jason; Pierson, Tyler M; Zamponi, Gerald W

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

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13041_2019_Article_509.pdf (798.41 KB)

Date

2019-10-24

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Abstract

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 channels in tsA-201 cells. Whole-cell patch-clamp recordings indicated that one variant (c.3844C > T; p.R1282W) caused a significant increase in current density consistent with a pathogenic gain-of-function phenotype; while the other cis-related variant (c.5294C > T; p.A1765V) had a benign profile.

Citation

Molecular Brain. 2019 Oct 24;12(1):86

URI

http://hdl.handle.net/1880/111179
https://doi.org/10.11575/PRISM/44829

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