Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

Willem Verhoeven,1,2 Jos Egger,1,3 Emmy Räkers,4 Arjen van Erkelens,5 Rolph Pfundt,5 Marjolein H Willemsen5 1Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands; 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam...

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Bibliographic Details
Main Authors: Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH
Format: article
Language:EN
Published: Dove Medical Press 2018
Subjects:
Bainbridge-Ropers syndrome
ASLX3
frameshift mutation
epilepsy
intellectual disability.
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Online Access:https://doaj.org/article/4109ab8c6a5b40e7972de4f34a7450c5
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https://doaj.org/article/4109ab8c6a5b40e7972de4f34a7450c5

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