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Article

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

Molecular brain - 24 Oct 2019

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

Abstract excerpt

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...

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Identifiers

PMID: 31651342
DOI: 10.1186/s13041-019-0509-5
PMCID: PMC6814130

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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