Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10412596" target="_blank" >RIV/00216208:11110/20:10412596 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/20:10412596 RIV/00064203:_____/20:10412596 RIV/00064165:_____/20:10412596
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=N2B7Zt0tG_" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=N2B7Zt0tG_</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.parkreldis.2020.06.028" target="_blank" >10.1016/j.parkreldis.2020.06.028</a>
Alternative languages
Result language
angličtina
Original language name
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Original language description
Mutations in the RHOBTB2 gene (MIM: 607352) have recently been associated with neurodevelopmental abnormalities, infantile-onset epileptic encephalopathy with various seizure types, intellectual disabilities, postnatal microcephaly with minor facial dysmorphia, and choreic or dystonic syndromes of paroxysmal nature. Here we present a patient with a recurrent RHOBTB2 mutation who had severe paroxysmal choreodystonia and aplasia cutis congenita (ACC), a feature that has not yet been described in association with RHOBTB2 variants, but no epilepsy.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Parkinsonism and Related Disorders
ISSN
1353-8020
e-ISSN
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Volume of the periodical
77
Issue of the periodical within the volume
August
Country of publishing house
GB - UNITED KINGDOM
Number of pages
2
Pages from-to
87-88
UT code for WoS article
000578015000020
EID of the result in the Scopus database
2-s2.0-85087676203