GOSR2: a progressive myoclonus epilepsy gene.
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.
Epilepsy Research Group, School of Pharmacy and Medical Sciences, University of South Australia, and Sansom Institute for Health Research, Adelaide, Australia.
Leanne M
LM
Dibbens
Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark, IRCCS, Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
Guido
G
Rubboli
D006801:Humans; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics* / Q000503:physiopathology*; D050766:Qb-SNARE Proteins / Q000235:genetics*
C491344:GOSR2 protein, human; D050766:Qb-SNARE Proteins
GOSR2; Progressive myoclonus epilepsy; ataxia; myoclonus; photosensitivity; scoliosis