A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10441715" target="_blank" >RIV/00216208:11110/21:10441715 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/21:10441715
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=XfGBe1iM~w" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=XfGBe1iM~w</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/mds.28647" target="_blank" >10.1002/mds.28647</a>

Result language
angličtina
Original language name
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia
Original language description
Recently, heterozygous mutations in the VPS16 (vacuolar protein sorting 16 homolog) gene linked to early-onset dystonia were identified among patients of European ancestry. Here, we report on the identification of a recurrent heterozygous loss-of-function variant in VPS16 in four independent patients of European descent with progressive early-onset dystonia with phenotypic characteristics resembling the original description.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
<a href="/en/project/NV19-04-00233" target="_blank" >NV19-04-00233: Clinical, Imaging and Biological predictors of effects associated with deep brain stimulation in Parkinson’s disease</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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