Table 1 Families and sporadic cases with mutations in CHRNA4, CHRNB2 and CHRNA2 reported so far
From: Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies
MUTATIONS | FAMILIES REPORTED | |||
|---|---|---|---|---|
gene | AA Change/domain | N | Origin | References |
CHRNA4 | S248F/ TM2 | 4 | British-AU | Steinlein et al. 1995 |
|  | Spanish | Sáenz et al. 1999 | ||
| Â | Norwegian | Steinlein et al. 2000 | ||
| Â | Scottish | McLellan et al. 2003 | ||
S252 L/ TM2 | 4 | Japanese | Hirose et al. 1999 | |
| Â | Lebanese | Phillips et al. 2000 | ||
| Â | Korean | Cho et al. 2003 | ||
| Â | Polish | Rozycka et al. 2003 | ||
1 | Italian (S) | Sansoni et al. 2012 | ||
776ins3/ TM2 | 1 | Norwegian | Steinlein et al. 1997 | |
T265I/ TM2 | 1 | German | Leniger et al. 2003 | |
R336H/ Intracel loop 2 | 1 | Chinese | Chen et al. 2009 | |
c.823A > T | 1 | Chinese (S) | Wang et al. 2014 | |
CHRNB2 | V287 L/ TM2 | 1 | Italian | De Fusco et al. 2000 |
V287 M/ TM2 | 2 | Scottish | Phillips et al. 2001 | |
| Â | Spanish | DÃaz-Otero et al. 2008 | ||
L301 V/ TM3 | 1 | Turkish Cypriot | Hoda et al. 2008 | |
V308A/ TM3 | 2 | Scottish | Hoda et al. 2008 | |
| Â | English | |||
I312M/ TM3 | 2 | English | Bertrand et al. 2005 | |
| Â | Korean | Cho et al. 2008 | ||
V337G/ TM3-intrac loop | 1 | Chinse (S) | Liu et al. 2011 | |
CHRNA2 | I279N/TM1 | 1 | Italian | Aridon et al. 2006 |
I297F/TM2 | 1 | Italian | Conti et al. 2015 | |