Genomic copy number variations at 17p13.3 and epileptogenesis.
Epilepsy Res
; 89(2-3): 303-9, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20227246
ABSTRACT
Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (MDS), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable seizures. Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3 a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation. In this study, it was suggested that the identified gain or loss of genomic copy numbers within 17p13.3 result in epileptogenesis and that triplication of LIS1 can cause symptomatic West syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 17
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Deleção Cromossômica
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1-Alquil-2-acetilglicerofosfocolina Esterase
/
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
/
Proteínas Associadas aos Microtúbulos
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
/
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article