Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
oleh: Ivana A. Souza, Maria A. Gandini, Fang-Xiong Zhang, Wendy G. Mitchell, Joyce Matsumoto, Jason Lerner, Tyler Mark Pierson, Gerald W. Zamponi
| Format: | Article |
|---|---|
| Diterbitkan: | BMC 2019-10-01 |
Deskripsi
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.