Table 1.
The Calcium Channel α Subunits in Human Disease.
| Type | Subunit | Gene | Human Disease (Inheritance) | Epilepsy | Pathogenic Mechanism in Epilepsy |
|---|---|---|---|---|---|
| L-type | Cav1.1 | CACNA1S | Hypokalemic periodic paralysis (AD, de novo)1 | N | |
| Cav1.2 | CACNA1C | Timothy syndrome (de novo, AD)2 | N (seizures very rare) | ||
| Cav1.3 | CACNA1D | Autism, ID, epilepsy (de novo)3 | Y | Gain of function3 | |
| Cav1.4 | CACNA1F | Congenital stationary night blindness (XLR)4 | N | ||
| P/Q-type | Cav2.1 | CACNA1A | DEE5, episodic ataxia,6 hemiplegic migraine7 (de novo, AD) | Y | Haploinsufficiency8 |
| N-type | Cav2.2 | CACNA1B | Dystonia (disputed)9,10 | N | |
| R-type | Cav2.3 | CACNA1E | DEE (de novo) | Y | Gain of function |
| T-type | Cav3.1 | CACNA1G | Cerebellar atrophy with epilepsy (de novo)11, GGE (complex)12 | Y | Gain of function11 |
| Cav3.2 | CACNA1H | Epilepsy (disputed)13,14 | ? | ||
| Cav3.3 | CACNA1I | Schizophrenia (candidate)15 | N |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; DEE, developmental and epileptic encephalopathy; GGE, genetic generalized epilepsy; ID, intellectual disability; N, no; XLR, X-linked recessive; Y, yes.