Table 1.
FHM1 | FHM2 | FHM3 | |
---|---|---|---|
Genes | CACNA1A | ATP1A2 | SCN1A |
Chromosome location | 19p13 | 1q23 | 2q24 |
Year of identification | 1996 | 2003 | 2005 |
Mutation summary | Encodes the α-1A subunit of the P/Q type calcium channel | Encodes the α-2 subunit of the Na+,K+-ATPase | Encodes the α-1 subunit of the voltage-gated Na+ channel NaV1.1 |
Typical functional modulation | Gain-of-function | Loss-of-function | Gain-of-function |