Review Article
From Genetics to Genomics of Epilepsy
Table 9
Epilepsy diagnostic panels.
| Subpanels With Homogeneous Clinical Entities | Table | Number of genes |
| Myoclonic epilepsy, febrile seizures, absences | 1 | 37 | Encephalopathies | 3 | 30 | X-linked mental retardation (XLMR) | 4(a) | 25 | Joubert syndrome | 4(b) | 10 | Lissencephaly and polymicrogyria | 4(c) | 18 | Severe Microcephaly and pontocerebellar hypoplasia | 4(d) | 22 | Walker-Warburg syndrome | 4(e) | 6 | Holoprosencephaly | 4(f) | 8 | Leukodystrophies | 5(a) | 20 | Migraine | 5(b) | 6 | Disorders of the Ras-MAPK pathway | 5(c) | 13 | Hyperekplexia for defective glycine neurotransmission | 5(d) | 5 | Neuronal migration disorders | 5(e) | 31 | Inherited errors of metabolism | 6 | 49 | Congenital disorder of glycosylation (CDG) | 7(a) | 23 | Neuronal ceroid lipofuscinosis (NCL) | 7(b) | 8 | Defects of mitochondrial metabolism including coenzyme Q deficiency | 7(c) | 35 | Mucopolisaccaridosis and mucolipidosis | 7(d) | 15 | Peroxisome biogenesis disorders (PBD) | 7(e) | 9 | Syndromic epilepsy | 2 | 47 |
|
|