DNA change Amino acid change Patient ID Phenotype Gender Seizure onset (years) Type of seizures Family history of seizures
NM_018100.3:c.475C>T NP_060570.2:p.(Arg159Trp) 2 JME M 17 My, GTC Yes
13 JME F 12 My, A, GTC Yes
18 JME M 16 My, A, GTC Yes
22 JME F 14 My, A, GTC Yes
24 JME M 18 My, GTC Yes
26 JME M NI NI No
29 JME F 14 My, GTC Yes
39 JME F NI My, A, GTC Yes
41 JME M NI NI No
42 JME F 5 My, A, GTC Yes
47 JME F 19 My Yes
52 JME F 15 GTC, My, A No
60 JME F 9 GTC, My No
78 JME M 15 GTC, My, A No
82 JME F 14 GTC, My No
93 JME F 12 GTC, My No
97 JME F 20 GTC, My No
NM_018100.3:c.475C>G NP_060570.2:p.(Arg159Gly) 71 JME M 12 GTC, A No
NM_018100.3:c.545G>A NP_060570.2:p.(Arg182His) 9 JME F NI NI Yes
21 JME F 17 My, GTC Yes
28 JME F 13 My, A, GTC Yes
43 JME F 11 My, GTC Yes
46 JME F 19 My Yes
NM_018100.3:c.662G>A NP_060570.2:p.(Arg221His) 65 JME M 9 GTC, My No
NM_018100.3:c.685T>C NP_060570.2:p.(Phe229Leu) 4 JME M 7 My, GTC Yes
16 JME F NI NI No
23 JME M NI NI No
NM_018100.3:c.887G>A NP_060570.2:p.(Arg296His) 56 JME M 14 GTC, My, A No
58 JME M 14 GTC, My, A No
NM_018100.3:c.896A>G NP_060570.2:p.(Lys299Arg) 28 JME F 13 My, A, GTC Yes
NM_018100.3:c.1343T>C NP_060570.2:p.(Met448Thr) 4 JME M 7 My, GTC Yes
21 JME F 17 My, GTC Yes
44 JME F NI NI No
62 JME M 14 GTC, My No
66 JME F 7 GTC, My, A No
69 JME M 21 GTC, My, A No
76 JME M 4 GTC, My, A No
99 JME F 16 GTC, My, A No
NM_018100.3:c.1765G>A* NP_060570.2:p.(Glu589Lys) 87 JME M 11 GTC, My, A No
NM_018100.3:c.1820A>G* NP_060570.2:p.(Asn607Ser) 60 JME F 9 GTC, My No
NM_018100.3:c.1855A>C NP_060570.2:p.(Ile619Leu) 2 JME M 17 My, GTC Yes
19 JME F 21 My, A, GTC Yes
32 JME F 14 My, A, GTC Yes
34 JME F 12 My, A, GTC Yes
38 JME F NI NI No
43 JME F 11 My, GTC Yes
48 JME M 14 My, A, GTC Yes
56 JME M 14 GTC, My, A No
58 JME M 14 GTC, My, A No
68 JME M 13 GTC, My No
70 JME M 3 GTC, My, A No
89 JME M NI GTC, My No
104 GTCSa F 11 GTC Yes