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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Autores principales:	Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	Bainbridge-Ropers syndrome ASLX3 frameshift mutation epilepsy intellectual disability. Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/4109ab8c6a5b40e7972de4f34a7450c5
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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

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