L'épilepsie dans les aberrations chromosomiques

Bahi‐Buisson, Nadia; Ville, Dorothée; Eisermann, M.; Plouin, Perrine; Kamińska, Anna; Chiron, Catherine

doi:10.1016/j.arcped.2004.12.016

Cited by 18 publications

(2 citation statements)

References 36 publications

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“…These patterns are essentially of two types: one is characterized by frequent, diffuse, atypical slow sharp element, spike and wave complexes often occurring in long bursts activated by slow wave sleep, with paroxysmal activity associated with typical absences. The second type shows frequent high amplitude, fast spikes-polyspikes and wave complexes over the posterior third of the head, triggered by eye closure [11,24-26]. These abnormalities are even present in patients who had not experienced seizures [20-23].…”

Section: Resultsmentioning

confidence: 99%

Epilepsy and chromosomal abnormalities

Sorge

2010

Ital J Pediatr

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BackgroundMany chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.MethodsDetailed clinical assessment, electrophysiological studies, survey of the literature.ResultsIn some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy.ConclusionsA better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.

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Section: Resultsmentioning

confidence: 99%

Epilepsy and chromosomal abnormalities

Sorge

2010

Ital J Pediatr

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“…As to the epileptic phenotype, myoclonic seizures and photoparoxysmal responses are reported in several abnormalities of chromosomes (Schinzel & Niedrist, 2001; Kumada et al., 2005; Tauer et al., 2005; Yamanouchi et al., 2005). More precisely, epilepsy‐related photoparoxysmal response has been mapped to several loci on chromosomes 2, 6, 13, 7, and 16, according to genome‐wide linkage studies (Bahi‐Buisson et al., 2005), but not to chromosome 15. Concerning chromosome 15, both Angelman syndrome (del 15q11–q13) and the inversion duplication 15 syndrome are conditions characterized by the presence of myoclonic seizures, but photosensitivity is not the rule, even if is reported that patients affected with Angelman syndrome may have hyperexcitability of the visual cortex (Yamanouchi et al., 2005).…”

Section: Discussionmentioning

confidence: 99%

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

Veredice¹,

Bianco²,

Contaldo³

et al. 2009

Epilepsia

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SUMMARYThe authors report the study of a 30-month-old girl with refractory myoclonic epilepsy associated with mental retardation, growth delay, peculiar facial appearance, and minor physical anomalies. Extensive genetic studies were performed, including an array-based comparative genomic hybridization (array-CGH) that showed a cryptic interstitial deletion of 15q (5 Mb) affecting the 15q26.1-26.2 region. Partial deletions of the long arm of chromosome 15, including the 15q26 region, were observed in syndromic associations that typically include congenital diaphragmatic hernia, but neurologic features were poorly described and epileptic seizures were never reported. Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval.

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Seizures and EEG features in 74 patients with genetic‐dysmorphic syndromes

Alfei

Raviglione

Franceschetti

et al. 2014

American J of Med Genetics Pt A

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Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome.

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L'épilepsie dans les aberrations chromosomiques

Cited by 18 publications

References 36 publications

Epilepsy and chromosomal abnormalities

Epilepsy and chromosomal abnormalities

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

Seizures and EEG features in 74 patients with genetic‐dysmorphic syndromes

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