A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2

Détails

ID Serval
serval:BIB_00A43DF87404
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
Périodique
Epilepsia
Auteur(s)
Dimassi S., Labalme A., Lesca G., Rudolf G., Bruneau N., Hirsch E., Arzimanoglou A., Motte J., de Saint Martin A., Boutry-Kryza N., Cloarec R., Benitto A., Ameil A., Edery P., Ryvlin P., De Bellescize J., Szepetowski P., Sanlaville D.
ISSN
1528-1167 (Electronic)
ISSN-L
0013-9580
Statut éditorial
Publié
Date de publication
02/2014
Volume
55
Numéro
2
Pages
370-8
Langue
anglais
Notes
Dimassi, Sarra
Labalme, Audrey
Lesca, Gaetan
Rudolf, Gabrielle
Bruneau, Nadine
Hirsch, Edouard
Arzimanoglou, Alexis
Motte, Jacques
de Saint Martin, Anne
Boutry-Kryza, Nadia
Cloarec, Robin
Benitto, Afaf
Ameil, Agnes
Edery, Patrick
Ryvlin, Philippe
De Bellescize, Julitta
Szepetowski, Pierre
Sanlaville, Damien
eng
Research Support, Non-U.S. Gov't
Epilepsia. 2014 Feb;55(2):370-8. doi: 10.1111/epi.12502. Epub 2013 Dec 24.
Résumé
OBJECTIVES: Rolandic epilepsies (REs) represent the most frequent epilepsy in childhood. Patients may experience cognitive, speech, language, reading, and behavioral issues. The genetic origin of REs has long been debated. The participation of rare copy number variations (CNVs) in the pathophysiology of various human epilepsies has been increasingly recognized. However, no systematic search for microdeletions or microduplications has been reported in RE so far. METHODS: Array comparative genomic hybridization (aCGH) and quantitative polymerase chain reaction (qPCR) were used to analyze the genomic status of a series of 47 unrelated RE patients who displayed various types of electroclinical manifestations. RESULTS: Thirty rare CNVs were detected in 21 RE patients. Two CNVs were de novo, 12 were inherited, and 16 were of unknown inheritance. Each CNV was unique to one given patient, except for a 16p11.2 duplication found in two patients. The CNVs of highest interest comprised or disrupted strong candidate or confirmed genes for epileptic and other neurodevelopmental disorders, including BRWD3, GRIN2A, KCNC3, PRKCE, PRRT2, SHANK1, and TSPAN7. SIGNIFICANCE: Patients with REs showed rare microdeletions and microduplications with high frequency and heterogeneity. Whereas only a subset of all genomic alterations found here may actually participate in the phenotype, the novel de novo events as well as several inherited CNVs contain or disrupt genes, some of which are likely to influence the emergence, the presentation, or the comorbidity of RE. The future screening of cohorts of larger size will help in detecting more de novo or recurrent events and in appreciating the possible enrichment of specific CNVs in patients with RE.
Mots-clé
Adolescent, Child, Child, Preschool, Cohort Studies, DNA Copy Number Variations/genetics, Epilepsy, Rolandic/*diagnosis/*genetics, Female, Genetic Association Studies/*methods, Genetic Heterogeneity, Humans, Male, Membrane Proteins/*genetics, Nerve Tissue Proteins/*genetics, Receptors, N-Methyl-D-Aspartate/*genetics, 16p11.2 duplication, Array-CGH, Grin2a, Prrt2, Rolandic epilepsy
Pubmed
Open Access
Oui
Création de la notice
29/11/2018 12:36
Dernière modification de la notice
20/08/2019 12:22
Données d'usage