Journal articles
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
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.
Cited literature [9 references]
https://hal-amu.archives-ouvertes.fr/hal-01668016
Contributor : Laurent Villard <>
Submitted on : Tuesday, December 19, 2017 - 5:12:10 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:14 PM
Contributor : Laurent Villard <>
Submitted on : Tuesday, December 19, 2017 - 5:12:10 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:14 PM
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Abidi 2016 WDR45.pdf
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