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editorial
. 2016 Oct 13;594(20):5817–5821. doi: 10.1113/JP272619

Table 1.

Human Ca2+ channel diseases associated with or caused by genetic variants or mutations in pore forming α1‐subunits

Ca2+ channel disease
Type Pore‐forming subunit (gene) Gain of function Loss of function References
L‐type Cav1.1 (CACNA1S)

  • Hypokalaemic periodic paralysis I (fam, mis)

  • Malignant hyperthermia susceptibility (fam, mis)

  • n.r.

 Striessnig et al. 2010
Cav1.2 (CACNA1C)

  • Associated with risk for schizophrenia, bipolar disorder and ASD (SNPs)

  • Timothy syndrome (dn, mis)

  • Long QT‐syndrome (fam, mis)

  • Brugada syndrome ± short‐QT (fam, mis)

 Zamponi et al. 2015
Cav1.3 (CACNA1D)

  • Strong risk for ASD (dn, mis)

  • PASNA (dn, mis)

  • Primary aldosteronism (aldosterone producing adenomas, somatic, dn, mis)

  • Sinoatrial node dysfunction and deafness (SANDD; fam, ins)

 Pinggera & Striessnig, 2016
Cav1.4 (CACNA1F)

  • n.r.

  •  Various X‐linked retinal disorders (fam, mis/lof)

 Zamponi et al. 2015
P/Q‐type Cav2.1 (CACNA1A)

  • Familial hemiplegic migraine I (fam, missense)

  • Congential ataxia (fam, in frame deletion)

  • Spinocerebellar ataxia type 6 (pQex)1

  • Episodic Ataxia II (fam, mis/lof)2

  • Absence epilepsy and episodic ataxia (fam, mis)

  • Benign paroxysmal torticollis of infancy (fam, lof)

  • Benign paroxysmal tonic upgaze (fam/dn, lof)

  • Zamponi et al. 2015; Bahamonde et al. 2015; Vila‐Pueyo et al. 2014;

  • Imbrici et al. 2004; Roubertie et al. 2008

N‐type Cav2.2 (CACNA1B)

  • Unconfirmed: myoclonus‐dystonia syndrome (dn, mis)

  • n.r.

 Mencacci et al. 2015
R‐type Cav2.3 (CACNA1E)

  • n.r.

  • n.r.

 Zamponi et al. 2015, 4
T‐type Cav3.1 (CACNA1G)

  • Spinocerebellar ataxia (fam, mis)3

  • n.r.

 Coutelier et al. 2015
Cav3.2 (CACNA1H)

  • Associated with risk for epilepsy (dn, mis)

  • n.r.

 Zamponi et al. 2015
Cav3.3 (CACNA1I)

  • n.r.

  • n.r.

 Zamponi et al. 2015, 4

Autoimmune disorders involving anti‐Ca2+ channel antibodies and diseases caused by genetic defects in associated α2δ‐ and β‐subunits are not listed here (see Zamponi et al. 2015 for a recent review). 1Functional consequences for channel function unclear but likely loss‐of‐function. 2Episodic ataxia may co‐exist with other phenotypes caused by CACNA1A mutations. 3Enhanced neuronal activity predicted in deep cerebellar nuclei. 4See review for mouse knockout phenotypes. Abbreviations: dn, de novo mutation; fam, familial (some may also occur sporadically); ins, in‐frame insertion; lof, loss of function mutation; mis, missense; n.r., not reported; PASNA, primary aldosteronism, seizures and neurological abnormalities; pQex, poly glutamine expansion.