|
1
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0002446)
|
Astrocytosis |
|
|
|
|
7 / 7739
|
|
4
|
(HPO:0007042)
|
Focal white matter lesions |
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
6
|
(OMIM)
|
Seizures, severe, drug-resistant, intractable |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Seizures occur multiple times per day |
|
|
|
|
4 / 7739
|
|
8
|
(OMIM)
|
Complex partial seizures, often with secondary generalization, are the most common type |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
Focal neurologic deficits |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Impaired cognition |
|
|
|
|
4 / 7739
|
|
11
|
(OMIM)
|
Biopsy in both types shows neuronal cytomegaly (large, bizarre, maloriented neurons) in the laminar cortex |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Disorganized cortical architecture |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
MRI may be normal, especially in type IIB |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(OMIM)
|
Absence of balloon cells (in type IIA) |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Multifocal areas of laminar dysmorphic neurons (in type IIA) |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Balloon cells (in type IIB) |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Blurry cortical-white matter junction due to spillover of abnormal neurons (in type IIB) |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Diffuse fibrillar astrocytosis (in type IIB) |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Focal thickening of the cortex on MRI (in type IIB) |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Blurring of the gray-white junction (in type IIB) |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Increased white matter abnormalities on T2 signalling (in type IIB) |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Funnel-shaped signal tapering from subcortical white matter to ventricle (in some type IIB patients) |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
25
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
27
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|