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 |
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