|
1
|
(HPO:0007042)
|
Focal white matter lesions |
|
|
|
|
7 / 7739
|
|
2
|
(OMIM)
|
Seizures, severe, drug-resistant, intractable |
|
|
|
|
4 / 7739
|
|
3
|
(OMIM)
|
Seizures occur multiple times per day |
|
|
|
|
4 / 7739
|
|
4
|
(OMIM)
|
Complex partial seizures, often with secondary generalization, are the most common type |
|
|
|
|
4 / 7739
|
|
5
|
(OMIM)
|
Focal neurologic deficits |
|
|
|
|
5 / 7739
|
|
6
|
(OMIM)
|
Impaired cognition |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Biopsy in both types shows neuronal cytomegaly (large, bizarre, maloriented neurons) in the laminar cortex |
|
|
|
|
4 / 7739
|
|
8
|
(OMIM)
|
Disorganized cortical architecture |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
MRI may be normal, especially in type IIB |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(OMIM)
|
Absence of balloon cells (in type IIA) |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Multifocal areas of laminar dysmorphic neurons (in type IIA) |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Balloon cells (in type IIB) |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Blurry cortical-white matter junction due to spillover of abnormal neurons (in type IIB) |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Diffuse fibrillar astrocytosis (in type IIB) |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Focal thickening of the cortex on MRI (in type IIB) |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Blurring of the gray-white junction (in type IIB) |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Increased white matter abnormalities on T2 signalling (in type IIB) |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Funnel-shaped signal tapering from subcortical white matter to ventricle (in some type IIB patients) |
|
|
|
|
4 / 7739
|