Table 1 Clinical features of our cohort
ID/ Sex/ Age (mo) | Consanguinity | Seizure onset (mo) | Seizures semiology | LD | MD | CD | PR (age at onset, mo) | Other clinical features (age at onset, mo) | EEG | Brain MRI | Negative genetic investigations |
|---|---|---|---|---|---|---|---|---|---|---|---|
1/M/52 | – | 36 | TC | + | + | – | – | clumsiness (> 25), hyperactivity and attention deficit (44) | central EA (↑ in sleep) | – | – |
2/F/56 | – | 36 | TC; absences | + nv | + | + severe | + (24) | autistic-like behaviour (Rett-like phenotype) | central-temporal EA | – | MECP2, CDKL5, UBE3A, array-CGH |
3/F/24 | – | 24 | Focal to bilateral TC | + | + | + mild | – | – | frontal and central-temporal EA | – | Karyotype; array-CGH |
4/F/29 | – | 24 | TC | + | – | – | – | Clumsinessb | diffuse EA sleep dependent | Chiari 1 | – |
5/M/24 | – | 24 | TC | + | + | – | – | behavioural abnormalities (≥24); sleep disturbancesb | R frontal-temporal EA | – | – |
6/F/50 | – | 45 | Absences; myoclonic | + | + | – | – | – | B temporal EA | – | – |
7/M/41 | – | 24 | Myoclonic | + | + | + moderate | – | mild hypotoniab | Generalized EA | – | – |
8/M/24 | + | 24 | TC; myoclonic | + | + | + mild | – | ataxia (≥24)a | Generalized EA | – | Karyotype; array-CGH |
9/F/50 | – | 44 | TC | – | – | – | – | Hyperactivity and attention deficit (44) | Generalized EA | Chiari 1 | – |
10/M/54 | – | 52 | TC (previous febrile seizures) | + | – | – | – | – | B posterior EA | – | – |
11/F/55 | – | 27 | Focal to bilateral TC; atypical absences | + | – | – | – | hyperactivity (< 27); sleep disturbances (< 27) | L central-parietal EA | – | – |
12/F/24 | – | 24 | TC | + nv | + Nw | + severe | – | autistic-like behaviour; microcephaly (Rett-Like phenotype) | Generalized EA | – | – |
13/F/31 | – | 29 | TC; myoclonic; atypical absences | + nv | + Nw | + severe | – | hypotoniab; autistic-like behaviour; microcephalyc (Rett-like phenotype) | L central-anterior EA | – | Array-CGH |
14/F/30 | + | 24 | Tonic | + nv | + | + severe | – | hypotoniab; autistic-like behaviour (12 mo); nystagmusd | B frontal-temporal EA | – | – |
15/M/33 | – | 29 | Myoclonic; atonic | – | – | – | – | Hyperactivity (32) | B posterior EA | – | – |
16/M/42 | – | 24 | Atonic | + | + | + mild-moderate | – | Mild spastic diplegiae microcephaly congenital heart defect | Generalized EA | choroid plexus cyst; occipital dysgiria | Array-CGH |
17/F/57 | – | 24 | Absences; myoclonic | + | – | – | – | clumsiness (17) | B Parietal EA | WMH | – |
18/F/44 | – | 33 | Atonic | + | – | – | – | – | Generalized and focal EA | – | – |
19/F/35 | – | 33 | Myoclonic | + | – | – | – | – | Multifocal and generalized EA with PPRf | Cerebral atrophy | – |
20/M/33 | – | 24 | Focal motor with or without bilateral TC evolution | – | – | + Moderate | – | – | Focal (independent B temporal-occipital EA) | – | – |
21/F/50 | – | 45 | Myoclonic, Atonic | + | – | – | + (> 45) | tremor (50); ataxia (50) | Multifocal EA | PvWMH Cerebellar atrophy | – |