CACNA1A — calcium voltage-gated channel subunit alpha1 A | MEDLIB

gene with protein productOMIM: 6010117 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

Familial or sporadic hemiplegic migraineORPHA:569

Non-specific early-onset epileptic encephalopathyORPHA:442835

Benign paroxysmal torticollis of infancyORPHA:71518

Spinocerebellar ataxia type 6ORPHA:98758

Disease-causing germline mutation(s) (loss of function) in2

Familial paroxysmal ataxiaORPHA:97

Lennox-Gastaut syndromeORPHA:2382

Ген-кандидат1

Alternating hemiplegia of childhoodORPHA:2131

Disease-causing germline mutation(s) (gain of function) in1

Lennox-Gastaut syndromeORPHA:2382

gene with protein productOMIM: 6010117 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

Familial or sporadic hemiplegic migraineORPHA:569

Non-specific early-onset epileptic encephalopathyORPHA:442835

Benign paroxysmal torticollis of infancyORPHA:71518

Spinocerebellar ataxia type 6ORPHA:98758

Disease-causing germline mutation(s) (loss of function) in2

Familial paroxysmal ataxiaORPHA:97

Lennox-Gastaut syndromeORPHA:2382

Ген-кандидат1

Alternating hemiplegia of childhoodORPHA:2131

Disease-causing germline mutation(s) (gain of function) in1

Lennox-Gastaut syndromeORPHA:2382