Ontology highlight
ABSTRACT:
SUBMITTER: Synofzik M
PROVIDER: S-EPMC6189112 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Synofzik Matthis M Helbig Katherine L KL Harmuth Florian F Deconinck Tine T Tanpaiboon Pranoot P Sun Bo B Guo Wenting W Wang Ruiwu R Palmaer Erika E Tang Sha S Schaefer G Bradley GB Gburek-Augustat Janina J Züchner Stephan S Krägeloh-Mann Ingeborg I Baets Jonathan J de Jonghe Peter P Bauer Peter P Chen S R Wayne SRW Schöls Ludger L Schüle Rebecca R
European journal of human genetics : EJHG 20180620 11
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a European EOA target cohort (n = 120), US-American EOA validation cohort (n = 72), and early-onset epileptic encephalopathy (EOEE) control cohort (n = 139) were screened for de novo ITPR1 variants. The target cohort was also screened for inherited ITPR1 ...[more]