Skip to main content

Table 1 Clinical features of our cohort

From: Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

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
  1. B bilateral, CGH Comparative Genomic Hybridization, CD cognitive delay, EA epileptiform abnormalities, EEG electroencephalogram, F female, L left, LD language delay, M male, MD motor delay, MRI magnetic resonance imaging, nv not verbal, nw not walking, PPR photoparoxysmal response, PR psychomotor regression, PvWMH periventricular white matter hyperintensity (T2 weighted image), R right, TC tonic-clonic, WMH white matter hyperintensity
  2. a it began with the acquisition of autonomous walking at 2 years of age; b these symptoms were reported as always present without an apparent regression; c Secondary microcephaly from 6 months of age; d present at the time of the first evaluation (30 months), if earlier; e evident between 6 months and one year of age; f EEG with intermittent photic stimulation revealed a PPR at low and medium stimulation frequencies