Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
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ABSTRACT:
SUBMITTER: Praschberger R
PROVIDER: S-EPMC6178697 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Publications
Expanding the Phenotype and Genetic Defects Associated with the <i>GOSR2</i> Gene.
Praschberger Roman R Balint Bettina B Mencacci Niccolo E NE Hersheson Joshua J Rubio-Agusti Ignacio I Kullmann Dimitri M DM Bettencourt Conceição C Bhatia Kailash K Houlden Henry H
Movement disorders clinical practice 20150617 3
<h4>Background</h4>The homozygous missense mutation c.430G>T (p.G144W) in the <i>GOSR2</i> gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated <i>GOSR2</i> mutation has been reported.<h4>Methods</h4>From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in <i>GOSR2, SCARB2</i> and <i>CSTB</i>.<h4>Results</h4>A 61-year-old female patient sufferi ...[more]
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