Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Affef Abidi 1 Cecile Mignon-Ravix 1 Pierre Cacciagli 1 Nadine Girard 2 Mathieu Milh 3 Laurent Villard 1
1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 TIMONE - Hôpital de la Timone [CHU - APHM]
3 Epilepsie et ischémie cérébrale
Abstract : Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically heterogeneous condition. WDR45 variants cause a childhood-onset encephalopathy accompanied by neurodegeneration in adulthood and iron accumulation in the basal ganglia. They have been almost exclusively found in females, and male lethality was suggested. Here we describe a male patient suffering from a severe and early neurological phenotype, initially presenting early-onset epileptic spasms in clusters associated with an abnormal interictal electroencephalography showing slow background activity, large amplitude asynchronous spikes and abnormal neurological development. This patient is a carrier of a 19.9-kb microdeletion in Xp11.23 containing three genes, including WDR45. These findings reveal that males with WDR45 deletions are viable, and can present with early-onset epileptic encephalopathy without brain iron accumulation.
Type de document :
Article dans une revue
European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (4), pp.615 - 618. 〈10.1038/ejhg.2015.159〉
Liste complète des métadonnées

Littérature citée [9 références]  Voir  Masquer  Télécharger
https://hal-amu.archives-ouvertes.fr/hal-01668016
Contributeur : Laurent Villard <>
Soumis le : mardi 19 décembre 2017 - 17:12:10
Dernière modification le : lundi 27 août 2018 - 09:44:38

Fichier

Abidi 2016 WDR45.pdf
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

UNIV-AMU | MMG

Citation

Affef Abidi, Cecile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, et al.. Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (4), pp.615 - 618. 〈10.1038/ejhg.2015.159〉. 〈hal-01668016〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

44

Téléchargements de fichiers

31

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD