Table 1 Clinical expressions of various focal epilepsies caused by DEPDC5 variants
From: What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report
Focal epilepsies (former nomenclature) | ||||
|---|---|---|---|---|
ADSHE [6] (ADNFLE) | ADEAF [5] (ADLTE) | FFEVF [4] | Proband’s epilepsy | |
Average age at onset | Childhood (8 years-12 years) | Adolescence-Adult (16.24 years) | Infancy-Adult (3 months-40 years) | 5 months |
Site of onset | Frontal lobe | Lateral temporal lobe | Individuation, intrafamilial variation | Right frontal lobe |
Features of seizures | Sleep-related motor seizures | With auditory auras and symptoms | Individuation, intrafamilial variation | Binocular gaze, tonic seizure of right upper limb |
Brain MRI | Generally normal | Unremarkable | ||
EEG | Frontal epileptiform discharges | Lateral temporal epileptiform discharges | Individuation, intrafamilial variation | Right frontal epileptiform discharges |