Sodium channel mutations in epilepsy
and other neurological disorders
J. Clin. Invest. Miriam H. Meisler, et al. 115:2010 doi:10.1172/JCI25466 [
Go to this article.]
Figure 2More than 150 mutations in the sodium channel protein have been identified in patients with GEFS+ and SMEI. (
A) Missense mutations of
SCN1A identified in families with GEFS+ (
14,
16,
17,
19,
21–
25). (
B) Truncation mutations of
SCN1A identified in SMEI patients (
18,
26,
27,
44,
47,
50,
53,
54,
79–
84). (
C) Missense mutations of
SCN1A in patients with SMEI (red), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) (orange), and infantile spasms (purple) (18, 26, 27, 44, 47, 50, 53, 79–84). (
D) Mutations of
SCN2A in patients with benign familial neonatal-infantile seizures (BFNIS) (blue), GEFS+ (yellow), and SMEI (red) (
29–
32).
