Ontology highlight
ABSTRACT:
SUBMITTER: Tzoulis C
PROVIDER: S-EPMC3681964 | biostudies-other | 2013
REPOSITORIES: biostudies-other
Tzoulis Charalampos C Johansson Stefan S Haukanes Bjørn Ivar BI Boman Helge H Knappskog Per Morten PM Bindoff Laurence A LA
PloS one 20130613 6
We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The clinical features shown by our patients were typical of this disorder with the exception of epilepsy, which is a rare manifestation. This is th ...[more]