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Seizure : European journal of Epilepsy v.53, 2017년, pp.86 - 93   SCI SCIE
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The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants

d'Orsi, Giuseppe    (Epilepsy Centre –  ); Martino, Tommaso    (Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy   ); Palumbo, Orazio    (Epilepsy Centre –  ); Pascarella, Maria Grazia    (Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy   ); Palumbo, Pietro    (Medical Genetics Units, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo, Foggia, Italy   ); Di Claudio, Maria Teresa    (Epilepsy Centre –  ); Avolio, Carlo    (Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy   ); Carella, Massimo    (Medical Genetics Units, IRCCS “Casa Sollievo della Sofferenza”, San Giovanni Rotondo, Foggia, Italy   );
  • 초록  

    Abstract Purpose To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) Methods we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and microduplications. An ordinal logistic regression model was fitted with 34 demographic, clinical and EEG-related variables in order to identify the epilepsy phenotype of patients with pathogenic CNVs. Results chromosome microarray analysis identify non-polymorphic CNVs in 33 patients analyzed: 11 had an established pathogenic microdeletion/microduplication, 22 were carriers of CNVs of unknown clinical significance. Univariate analysis revealed a significant association between pathogenic CNVs and 3 electroclinical variables considered, specifically atypical absence seizures (p Conclusions high resolution SNP-Array analysis should be evaluated in adult patients with intellectual disability and epilepsy with peculiar electroclinical features, specifically atypical absence seizures, tonic seizures, and epileptic spasms, resembling a Lennox-Gastaut syndrome without a clear structural lesion. Highlights 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.


  • 주제어

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

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