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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
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Italian Journal of Pediatrics

ISSN: 1824-7288

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