Table 1.
Mutations of HCN1 and HCN2 in human epilepsy.
| Gene | Mutations | Phenotype | Biological effect | Reference |
|---|---|---|---|---|
| HCN1 | G47V S100F S272P H279Y R297T D401H | Early infantile epileptic encephalopathy (Dravet-like syndrome) | Gain-of-function mutations with possible dominant-negative effect (S100F, S272P, R297T) | Nava et al. (2014a) |
| HCN2 | R527Q | Idiopathic generalized epilepsy | No significant variation of Ih current | Tang et al. (2008) |
| delPPP | Febrile seizures (FS); genetic epilepsy with FS plus (GEFS+) | Gain-of-function mutation | Dibbens et al. (2010) | |
| E515K | Idiopathic generalized epilepsy | Loss-of-function mutation | DiFrancesco et al. (2011) | |
| S126L | FS | Temperature-dependent shift of HCN2 channel kinetics | Nakamura et al. (2013) |