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. 2018 Apr 23;9:351. doi: 10.3389/fphys.2018.00351

Table 1.

SCN1B variants linked to human disease.

Disease β1 β1B
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)