التفاصيل البيبلوغرافية
| العنوان: |
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy |
| المؤلفون: |
Picard, Fabienne, Makrythanasis, Periklis, Navarro, Vincent, Ishida, Saeko, de Bellescize, Julitta, Ville, Dorothée, Weckhuysen, Sarah, Fosselle, Erwin, Suls, Arvid, De Jonghe, Peter, Vasselon Raina, Maryline, Lesca, Gaetan, Depienne, Christel, An-Gourfinkel, Isabelle, Vlaicu, Mihaela, Baulac, Michel, Mundwiller, Emeline, Couarch, Philippe, Combi, Romina, Ferini-Strambi, Luigi, Gambardella, Antonio, Antonarakis, Stylianos, Leguern, Eric, Steinlein, Ortrud, Baulac, Stéphanie |
| المصدر: |
ISSN: 0028-3878 ; Neurology, vol. 82, no. 23 (2014) p. 2101-2106. |
| سنة النشر: |
2014 |
| المجموعة: |
Université de Genève: Archive ouverte UNIGE |
| مصطلحات موضوعية: |
info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/576.5, Adolescent, Adult, Aged, Child, Preschool, Chromosomes, Human, Pair 22 / genetics, Drug Resistance / genetics, Epilepsy, Frontal Lobe / genetics, Europe, Exome / genetics, Female, GTPase-Activating Proteins, Humans, Male, Middle Aged, Mutation / genetics, Pedigree, Phenotype, Repressor Proteins / genetics |
| الوصف: |
Objective: To study the prevalence of DEPDC5 mutations in a series of 30 small European families with a phenotype compatible with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Methods: Thirty unrelated families referred with ADNFLE were recruited in France, Italy, Germany, Belgium, and Norway. Whole-exome sequencing was performed in 10 probands and direct sequencing of the DEPDC5 coding sequence in 20 probands. Testing for nonsense-mediated messenger RNA decay (NMD) was performed in lymphoblastic cells. Results: Exome sequencing revealed a splice acceptor mutation (c.2355-2A>G) in DEPDC5 in the proband of a German family. In addition, 3 nonsense DEPDC5 mutations (p.Arg487*, p.Arg1087*, and p.Trp1369*) were detected in the probands of 2 French and one Belgian family. The nonsense mutations p.Arg487* and p.Arg1087* were targeted by NMD, leading to the degradation of the mutated transcripts. At the clinical level, 78% of the patients with DEPDC5 mutations were drug resistant. Conclusions: DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. The rate of drug resistance was high in patients with DEPDC5 mutations. Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable foci phenotype. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/24814846; https://archive-ouverte.unige.ch/unige:37943; unige:37943 |
| الاتاحة: |
https://archive-ouverte.unige.ch/unige:37943 |
| Rights: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.802EA70F |
| قاعدة البيانات: |
BASE |