The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

Giuseppe d'Orsi,Tommaso Martino,Orazio Palumbo,Maria Grazia Pascarella,Pietro Palumbo,Maria Teresa Di Claudio,Carlo Avolio,Massimo Carella

Seizure（2017）

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摘要

•To study the epilepsy phenotype in adult patients with ID and pathogenic CNVs.•11 patients had pathogenic CNVs, 22 were carriers of variants of VOUS.•Significant association with atypical absences, tonic seizures, epileptic spasms.•SNP-Array should be evaluated in adult patients with Lennox-Gastaut syndrome.

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关键词

Epilepsy,Intellectual disability,Copy number variations,SNP-array,Lennox-Gastaut syndrome

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