Table 1.
Phenotypic features of individuals with 15q13.3 microdeletions
| Individual | Descent | Diagnosis | Seizure types | Age of onset | EEG | Cognition |
|---|---|---|---|---|---|---|
| EPICURE sample | ||||||
| Ao67 | German | JME | Myoclonus GTCS |
16 y 19 y |
GSW | Normal |
| 1674 | German | CAE | Absence | 5 y | GSW | ID |
| 254A | German | JAE | Absence GTCS |
9 y 13 y |
GSW | Normal |
| 60A | German | JAE | Absence GTCS |
12 y 14 y |
GSW | Normal |
| EZ1194 | Austrian | JME | Absence Myoclonus GTCS |
6 y 10 y 20 y |
GSW | Normal |
| 40281601 | German | CAE | Absence GTCS |
Uncertain 3 y |
GSW | Normal |
| D04u0213 | Dutch | JME | Absence Myoclonus GTCS |
4 y 13 y |
Irreg. GSW PPR |
Normal |
| Mixed IGE sample | ||||||
| E421 | Northern African | JME | Myoclonus GTCS |
<26 y 26 y |
Irreg. GSW | Normal |
| E435 | French | JME | Myoclonus GTCS |
12 y 12 y |
GSW | Mild deficits |
| L1371 | German | CAE | Absence | 4 y | Irreg. GSW | Normal |
| D07u0771 | Dutch | JAE | Absence | 14 y | GSW | Normal |
| E562 | French | JME | Myoclonus GTCS |
12 y 13 y |
GSW | Mild ID (IQ = 73) |
| Affected first-degree family members | ||||||
| 2376 (brother of 1674) | German | None | Severe ID | |||
| 254B (sister of 254A) | German | JME | Absence Myoclonus |
15 y 15 y |
GSW | Normal |
| E562M (mother of E562) | French | None | Panic disorder | |||
| E562B (brother of E562) | French | EGTCS | GTCS | Uncertain | Unknown | Normal |
CAE, childhood absence epilepsy; JAE, juvenile absence epilepsy; JME, juvenile myoclonic epilepsy; EGTCS, idiopathic epilepsy with GTCS; GTCS, generalized tonic-clonic seizures; GSW, generalized spike-wave discharges (2.5–5.0 Hz); Irreg. GSW, irregular generalized spike-wave discharges; PPR, photo-paroxysmal response; ID, intellectual disability.