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Table 2 Genes reported to associate with ID and availability of animal models, modulators and pathways

From: Calcium channelopathies and intellectual disability: a systematic review

Gene Name Subunit Current type Animal model for ID Other available animal models Modulators Disease pathway
CACNA1A Calcium voltage-gated channel subunit alpha1 A Cav2.1 P/Q-type Conditional Ca(V)2.1 knock-out model [225] Animal models of ataxia [144, 165, 226, 227]. Mouse models of migraine [223, 228,229,230]. Drosophila model of Spinocerebellar Ataxia Type 6 [231]. Genetic models of epilepsy in mice [232,233,234].Tottering-6j mice for absence seizures and motor dysfunctions [235, 236]. Cacna1a-mutant GRY rat for absence seizures [143]. Mice model of peripheral nerve injury [237]. The Rolling mouse Nagoya (Cacna1a (tg-rol)) for autosomal dominant cerebellar ataxia (SCA6), familial hemiplegic migraine and episodic ataxia type-2 [238] Seizures were inhibited by ethosuximide and valproic acid, but not by phenytoin in Tottering-6j mice [235]. Seizures were inhibited by ethosuximide and valproic acid but not phenytoin in Cacna1a-mutant GRY rat for absence seizures [143]. Acetazolamide could abolish stress-induced ataxia in mice [144] Apoptotic pathway in ataxia [152]
CACNA1C Calcium voltage-gated channel subunit alpha1 C Cav1.2 L-type Genetic Cacna1c rat model [239]. Cacna1c knockout model [240]. Mouse line with an inactivation of the Cav1.2 gene in the hippocampus and neocortex (Cav1.2 (HCKO)) [241]. Conditional knockout mice [242] Mouse model of autism spectrum disorder [243, 244]. Mouse model of Timothy syndrome [245]. Neuropsychiatric disorders animal model [246, 247]. Mouse model of Huntington's disease [248]. Cacna1c HET mice for depression-related behaviors [249]. PLZF knock-out mice for type 2 diabetes mellitus [250]. Cardiac hypertrophy model [148] Diltiazem could inhibit influenza A virus infection in vivo and in vitro [147]. MiR-135b could inhibit cardiomyocyte hypertrophy [148]. Nifedipine can block Cav1.2 current [146] Oxidative stress pathway for affective disorders [156]
Apoptotic pathway in Timothy syndrome [153]
Apoptotic pathway in dilated cardiomyopathy [154]
CACNA1D Calcium voltage-gated channel subunit alpha1 D Cav1.3 L-type None Zebrafish larvae for schizophrenia [251]. Animal model of epilepsy [252] None Oxidative stress pathway in hearing loss [157]
CACNA1E Calcium voltage-gated channel subunit alpha1 E Cav2.3 R-type Mouse model of Fragile X Syndrome [253] Sprague–Dawley rats for epilepsy [254]. Cancer pain mouse model [255]. Mouse model of chronic neuropathic pain [256] None None
CACNA1F Calcium voltage-gated channel subunit alpha1 F Cav1.4 L-type None Cacna1f (nob2) mice for vision [257, 258]. Cacna1f loss of function model of congenital stationary night blindness [259, 260]. IT mouse line that harbors the gain-of-function mutation for the congenital stationary night blindness type 2 [261] None None
CACNA1G Calcium voltage-gated channel subunit alpha1 G Cav3.1 T-type None Mouse model for drowsiness [262]. Mouse model for spinocerebellar ataxia 42 [263]. Tremor model [264, 265]. Mouse model of epilepsy [266,267,268]. Mouse model of autoimmune encephalomyelitis [269]. Cardiac arrhythmias [270] None None
CACNA1I Calcium voltage-gated channel subunit alpha1 I Cav 3.3 T-type None None Niflumic acid can block Cav3.3 current [149] None
CACNA1H Calcium voltage-gated channel subunit alpha1 H Cav3.2 T-type None Polygenic rat model of absence epilepsy [271]. Mouse model of visceral hypersensitivity and in irritable bowel syndrome [272]. Mouse model of inflammatory and neuropathic pain [273] (2S)-6-prenylnaringenin can block Cav3.2 current [150] Apoptotic pathway in myocardial cells [155]
Autophagy pathway [158]
CACNA2D1 Calcium voltage-gated channel auxiliary subunit alpha2delta 1 Cav1.3 L-type None Conventional knockout mouse using a construct targeting exon 2 of alpha (2)/delta-1 [274]. α2 δ1 Tg model for neuropathic pain [275, 276] None None
CACNA2D2 Calcium voltage-gated channel auxiliary subunit alpha2delta 2 Cav1.3 L-type None The “ducky’ du (2 J) mouse model of ataxia and absence epilepsy [277]. Mouse model of prostate cancer [151] Gabapentin is a ligand of Cav1.3 [151] Apoptotic pathway [278]