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

Autor: d'Orsi G; Epilepsy Centre - Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy. Electronic address: giudorsi@yahoo.it., Martino T; Epilepsy Centre - Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy., Palumbo O; Medical Genetics Units, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy., Pascarella MG; Epilepsy Centre - Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy., Palumbo P; Medical Genetics Units, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy., Di Claudio MT; Epilepsy Centre - Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy., Avolio C; Epilepsy Centre - Clinic of Nervous System Diseases, Riuniti Hospital, Foggia, Italy., Carella M; Medical Genetics Units, IRCCS 'Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, Italy.
Jazyk: angličtina
Zdroj: Seizure [Seizure] 2017 Dec; Vol. 53, pp. 86-93. Date of Electronic Publication: 2017 Nov 14.
DOI: 10.1016/j.seizure.2017.11.009
Abstrakt: 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<0.05), tonic seizures (p<0.05), epileptic spasms (p<0.01).
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.
(Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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