Literature DB >> 15808438

[Epilepsy in chromosome aberrations].

N Bahi-Buisson1, D Ville, M Eisermann, P Plouin, A Kaminska, C Chiron.   

Abstract

Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances described with seizures and EEG abnormalities, eight have a high association with epilepsy. These comprise: the monosomy 1p36, Wolf-Hirschhorn syndrome (4p-), Angelman syndrome, Miller-Dieker del 17p13.3, the inversion duplication 15 syndrome, ring 20 and ring 14 syndromes, Down's syndrome. These chromosomal regions where aberrations have an evident association with epilepsy may be useful targets for gene hunters. On the other hand, a better characterisation of epileptic syndrome in these disorders may lead to a better and specific treatment.

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Year:  2005        PMID: 15808438     DOI: 10.1016/j.arcped.2004.12.016

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  3 in total

Review 1.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

2.  Intellectual disability and epilepsy in down syndrome.

Authors:  Diana Barca; Oana Tarta-Arsene; Alice Dica; Catrinel Iliescu; Magdalena Budisteanu; Cristina Motoescu; Niculina Butoianu; Dana Craiu
Journal:  Maedica (Buchar)       Date:  2014-12

Review 3.  Epilepsy and chromosomal abnormalities.

Authors:  Giovanni Sorge; Anna Sorge
Journal:  Ital J Pediatr       Date:  2010-05-03       Impact factor: 2.638

  3 in total

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