N'ihe banyere ọrịa ụbụrụ, e nwere ụdị abụọ nke ọrịa ụbụrụ nke a na-akpọ Timothy syndrome, nke a na-akpọ classic (ụdị-1) na nke a na-akpọ atypical (ụdị-2). Ha abụọ na-ebute site na mutations na CACNA1C, mkpụrụ ndụ ihe nketa nke na-ezo aka na calcium channel Cav1.2 α subunit. Mgbanwe nke ọrịa ụbụrụ nke Timothy na CACNA1C na-eme ka ọwa mechie ngwa ngwa, si otú a na-eme ka mkpali nke cellular dịkwuo elu. Ajụjụ: Olee mkpụrụ ndụ ihe nketa na-agbanwe?
CACNA1C