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

Souza, Ivana AGandini, Maria AZhang, Fang-XiongMitchell, Wendy GMatsumoto, JoyceLerner, JasonPierson, Tyler MZamponi, Gerald W2019-10-272019-10-272019-10-24Molecular Brain. 2019 Oct 24;12(1):86http://hdl.handle.net/1880/111179https://doi.org/10.11575/PRISM/44829Abstract 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.Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsyJournal Article2019-10-27enThe Author(s).https://doi.org/10.1186/s13041-019-0509-5