Atrial fibrillation |
R85H (Watanabe et al., 2009), D153N (Watanabe et al., 2009) |
R85H (Watanabe et al., 2009), D153N (Watanabe et al., 2009) |
Brugada syndrome |
E87Q (Watanabe et al., 2008) |
E87Q (Watanabe et al., 2008), H162P (Holst et al., 2012), W179X, R214Q (Holst et al., 2012; Hu et al., 2012) |
Dravet syndrome |
I106F (Ogiwara et al., 2012), Y119D (Ramadan et al., 2017), C121W (Wallace et al., 1998), R125C (Patino et al., 2009) |
I106F (Ogiwara et al., 2012), Y119D (Ramadan et al., 2017),C121W (Wallace et al., 1998), R125C (Patino et al., 2009) |
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
D25N (Orrico et al., 2009), R85H (Scheffer et al., 2006), R85C (Scheffer et al., 2006), R125L (Fendri-Kriaa et al., 2011), five amino acid deletions (IVS2-2A>C) (Audenaert et al., 2003) |
D25N (Orrico et al., 2009), R85H (Scheffer et al., 2006), R85C (Scheffer et al., 2006), R125L (Fendri-Kriaa et al., 2011), five amino acid deletions (IVS2-2A>C) (Audenaert et al., 2003) |
Idiopathic epilepsy |
|
G257R (Patino et al., 2011) |
Sudden Infant Death Syndrome (SIDS) |
|
R214Q (Hu et al., 2012), R225C (Neubauer et al., in press) |
Sudden Unexpected Nocturnal Death Syndrome (SUNDS) |
V138I (Liu et al., 2014), T189M (Liu et al., 2014) |
V138I (Liu et al., 2014) |
Long QT Syndrome (LQTS) |
|
P213T (Riuró et al., 2014) |