Table 1. Epilepsy phenotypes.
| Epilepsy syndrome | n | Genetic findings before inclusion in study |
|---|---|---|
| Distinct rare epilepsy syndromes or epileptic encephalopathies | ||
| Ohtahara syndrome | 2 | |
| BFNS | 1 | KCNQ2 del |
| MMPSI | 1 | |
| West Syndrome | 30 | DMD dela (n=1) |
| LGS | 9 | |
| Dravet syndrome | 3 | SCN1A (n=2) |
| ABPE (Pseudo-Lennox syndrome) | 3 | |
| CSWS | 13 | |
| Landau–Kleffner syndrome | 1 | |
| Generalized epilepsies | ||
| GGEb | 13 | |
| MAE | 5 | |
| PME | 5 | |
| Lesional epilepsies (symptomatic focal and generalized epilepsies) | ||
| Symptomatic focal epilepsy | 75 | |
| Symptomatic generalized epilepsyc | 2 | |
| Symptomatic epilepsy, unclassifiedd and/or presumably lesional | 60 | m.3243A>Ge (n=1)DMD dela (n=1) |
Abbreviations: ABPE, atypical benign partial epilepsy; BFNS, benign familial neonatal seizures; CSWS, continuous spikes and waves during slow sleep; GGE, genetic generalized epilepsies; LGS, Lennox–Gastaut syndrome; MAE, myoclonic astatic epilepsy; MMPSI, malignant migrating partial seizures of infancy; PME, progressive myoclonus epilepsy.
Patients NL41 and D16 carried a maternally transmitted deletion of DMD, which was considered unrelated to the epilepsy phenotype.
Patients with apparent idiopathic generalized epilepsy phenotypes, but additional imaging findings, dysmorphic features, or abnormal clinical examination.
Epilepsies not easily classified into distinct electroclinical syndromes such as West Syndrome or LGS.
Including patient NL69 with a monosomy of the X-chromosome compatible with Turner Syndrome.
Mitochondrial mutation related to MELAS (mitochondirial encephalomyelopathy, lactic acidosis, and stroke-like episodes).