Paroxysmal nocturnal dystonia in DNM1L-related syndrome

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F25%3A10497688" target="_blank" >RIV/00216208:11110/25:10497688 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/25:10497688
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=fcMUlmAy1G" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=fcMUlmAy1G</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.parkreldis.2025.107351" target="_blank" >10.1016/j.parkreldis.2025.107351</a>

Result language
angličtina
Original language name
Paroxysmal nocturnal dystonia in DNM1L-related syndrome
Original language description
The dynamin-1 like (DNM1L)-related disorders present with a variety of clinical manifestations, including developmental delay, hypotonia, ataxia, spasticity, peripheral neuropathy, microcephaly, refractory epilepsy, myoclonus, and brain MRI abnormalities. Herein, we report on the case of a young female with a de novo heterozygous missense variant in DNML1 with severe progressive neurological dysfunction, intellectual disability, epilepsy, and other symptoms, including atypical mostly nocturnal paroxysmal dystonic dyskinesias, which have not yet been described.
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
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)

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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