Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

OBJECTIVE: We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study. METHODS: CNVs contribute to the genetics of multiple neur...

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Autors principals: Mullen, Saul A., Carvill, Gemma L., Bellows, Susannah, Bayly, Marta A., Berkovic, Samuel F., Dibbens, Leanne M., Scheffer, Ingrid E., Mefford, Heather C.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3888172/
https://ncbi.nlm.nih.gov/pubmed/24068782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a95829
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