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

  • Author(s): Souza, Ivana A
  • Gandini, Maria A
  • Zhang, Fang-Xiong
  • Mitchell, Wendy G
  • Matsumoto, Joyce
  • Lerner, Jason
  • Pierson, Tyler Mark
  • Zamponi, Gerald W
  • et al.

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.

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