John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

GOSR2: a progressive myoclonus epilepsy gene Volume 18, supplément 2, September 2016

Illustrations

  • Figure 1
Auteurs
1 Epilepsy Research Group, School of Pharmacy and Medical Sciences,
University of South Australia, and Sansom Institute for Health Research,
Adelaide, Australia
2 Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark
3 IRCCS, Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
* Correspondence: Leanne M Dibbens Epilepsy Research Group, School of Pharmacy and Medical Sciences, University of South Australia and Sansom Institute for Health Research, Adelaide 5000, South Australia, Australia
  • Mots-clés : Progressive myoclonus epilepsy, GOSR2, myoclonus, photosensitivity, scoliosis, ataxia
  • DOI : 10.1684/epd.2016.0848
  • Page(s) : 111-4
  • Année de parution : 2016

GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi. The main clinical features of the GOSR2-associated PME are early-onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2-associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.