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 |