A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns-Reference-Cited by-同舟云学术

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns

Published:2017-06-15 Issue:7 Volume:264 Page:1444-1453
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Casey Jillian P.^ORCID,Hirouchi Taisei,Hisatsune Chihiro,Lynch Bryan,Murphy Raymond,Dunne Aimee M.,Miyamoto Akitoshi,Ennis Sean,van der Spek Nick,O’Hici Bronagh,Mikoshiba Katsuhiko,Lynch Sally Ann

Funder

Health Research Board

Children's Fund for Health Temple Street

Medical Research Charities Group Grant

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/article/10.1007/s00415-017-8545-5/fulltext.html

Reference39 articles.

1. Fogel BL, Lee H, Deignan JL et al (2014) Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol 71:1237–1246

2. Ohba C, Osaka H, Iai M et al (2013) Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 14:225–232

3. Huang L, Chardon JW, Carter MT et al (2012) Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis 7:67

4. Sasaki M, Ohba C, Iai M et al (2015) Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. J Neurol 262:1278–1284

5. Barresi S, Niceta M, Alfieri P et al (2016) Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clin Genet 91:86–91

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