publicações selecionadas
- Rare functional missense variants in CACNA1H: What can we learn from Writer?s cramp?
- Splice-variant specific effects of a CACNA1H mutation associated with writer?s cramp
- Regulation of CaV3.2 channels by the receptor for activated C kinase 1 (Rack-1)
- De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
- Expressão heteróloga de neurotoxinas do veneno da aranha Phoneutria nigriventer
- Caracterizacao molecular e funcional de toxinas recombinantes ativas em canais ionicos
- A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels
- The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function
- Functional identification of potential non-canonical N-glycosylation sites within Cav3.2 T-type calcium channels
- A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2-T-type channel activity