1
|
(HPO:0000622)
|
Blurred vision |
|
|
|
|
14 / 7739
|
2
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
3
|
(HPO:0001125)
|
Transient unilateral blurring of vision |
|
|
|
|
4 / 7739
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
6
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
8
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
9
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
10
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
11
|
(HPO:0002077)
|
Migraine with aura |
|
|
|
|
14 / 7739
|
12
|
(HPO:0002186)
|
Apraxia |
|
|
|
|
22 / 7739
|
13
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
14
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
15
|
(HPO:0002329)
|
Drowsiness |
|
|
|
|
19 / 7739
|
16
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
17
|
(HPO:0002381)
|
Aphasia |
|
|
|
|
27 / 7739
|
18
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
19
|
(OMIM)
|
Hemihypoasthesia |
|
|
|
|
1 / 7739
|
20
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
21
|
(OMIM)
|
Unusual aura symptoms include alien limb phenomenon, diplopia, apraxia, dysarthria, impaired hearing, vertigo |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Diffuse brain swelling occurs during coma |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Ictal EEG shows diffuse slow delta and theta activity |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Cerebellar signs during episodes |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Cerebellar ataxia during episodes |
|
|
|
|
1 / 7739
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
27
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
28
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|