|
1
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
2
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
4
|
(OMIM)
|
Auditory, olfactory, and visual auras |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Cortical myoclonic tremors characterized by 8 to 10-Hz discharges |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Temporal epileptiform discharges seen on EEG |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Head nodding |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Borderline intelligence |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Mesial temporal sclerosis (in 1 patient) |
|
|
|
|
1 / 7739
|
|
10
|
(MedDRA:10054089)
|
Depressive symptom |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|