Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10301835

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

—

Svazek periodika

10

Číslo periodika v rámci svazku

September

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

13

Strana od-do

—

Kód UT WoS článku

000361722500001

EID výsledku v databázi Scopus

2-s2.0-84942433711