SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population

Can J Neurol Sci. 2017 Nov;44(6):749-751. doi: 10.1017/cjn.2017.226. Epub 2017 Aug 30.

Authors

Ashraf Kharrat¹, Jennifer MacKenzie², Sunita Venkateswaran³

Affiliations

¹ 1Department of Paediatrics,University of TorontoToronto,Ontario,Canada.
² 2Department of Paediatrics,McMaster UniversityHamilton,Ontario,Canada.
³ 3Division of Paediatric Neurology,Department of PaediatricsUniversity of Ottawa,Ottawa,Ontario,Canada.

PMID: 28851465
DOI: 10.1017/cjn.2017.226

No abstract available

Keywords: Aicardi–Goutières syndrome; Cree encephalitis; Encephalopathy.

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Genetic Predisposition to Disease*
Humans
Male
Mutation / genetics*
SAM Domain and HD Domain-Containing Protein 1 / genetics*

Substances

SAM Domain and HD Domain-Containing Protein 1
SAMHD1 protein, human