Kalsiyum kanalları ile ilişkili patolojiler

Disease of Calcium channel     

1-Voltage-gated

a-CACNA1A “Cav2.1, P/Q voltage-dependent calcium channel: Familial hemiplegic migraine, Episodic ataxia, Spinocerebellar ataxia type-6

b-CACNA1C “Calcium channel, voltage-dependent, L type, alpha 1C subunit ( Cav1.2): Timothy syndrome, Brugada syndrome, Long QT syndrome 8

c-CACNA1FCav1.4 calcium channel, voltage-dependent, L type, alpha 1F subunit“: Ocular albinism 2, CSNB2A “Congenital stationary night blindness”

d-CACNA1S “Cav1.1 calcium channel, voltage-dependent, L type, alpha 1S subunit: Hypokalemic periodic paralysis, Thyrotoxic periodic paralysis

e-CACNB2 “Voltage-dependent L-type calcium channel subunit beta-2: Brugada syndrome

2-Ligand gated   

a-RYR1 “Ryanodine receptor 1 (RYR-1), skeletal muscle calcium release channel / skeletal muscle-type ryanodine receptor: Malignant hyperthermia, Central core disease

b-RYR2 “Ryanodine receptor 2: CPVT1” Catecholaminergic polymorphic ventricular tachycardia”, ARVD2 “Arrhythmogenic cardiomyopathy”