Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10301835" target="_blank" >RIV/00216208:11110/15:10301835 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10301835
Result on the web
<a href="http://dx.doi.org/10.1186/s13023-015-0335-5" target="_blank" >http://dx.doi.org/10.1186/s13023-015-0335-5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13023-015-0335-5" target="_blank" >10.1186/s13023-015-0335-5</a>
Alternative languages
Result language
angličtina
Original language name
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Original language description
Our study shows, based on a very extensive multinational cohort, that the phenotypic variation observed in AHC patients is mirrored in the heterogeneity of mutations affecting the ATP1A3 gene. We have described the clinical profiles of patients harbouring the three most frequent mutations (p.Glu815Lys, p.Asp801Asn and p.Gly947Arg) and reported extensive clinical information for patients with less common mutations, by considering the different mutations within specific clusters. Our results support the notion that, although it is clear that the alpha3 subunit is implicated in the pathogenesis of AHC, the presence of individual variability in patients with the same mutation implies that other modifier genes or epigenetic factors play a role and this should be investigated in future studies.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Orphanet Journal of Rare Diseases
ISSN
1750-1172
e-ISSN
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Volume of the periodical
10
Issue of the periodical within the volume
September
Country of publishing house
GB - UNITED KINGDOM
Number of pages
13
Pages from-to
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UT code for WoS article
000361722500001
EID of the result in the Scopus database
2-s2.0-84942433711