Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Brain"
DOI: 10.1186/s13041-019-0509-5
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… read more here.
Keywords: pathogenic cav3; cav3 channel; child; generalized epilepsy ... See more keywords
Structure-Function Studies of Sponge-Derived Compounds on the Cardiac CaV3.1 Channel
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043429
Abstract: T-type calcium (CaV3) channels are involved in cardiac automaticity, development, and excitation–contraction coupling in normal cardiac myocytes. Their functional role becomes more pronounced in the process of pathological cardiac hypertrophy and heart failure. Currently, no… read more here.
Keywords: structure function; function studies; channel; cav3 channel ... See more keywords