Judith Koliwer

We don’t have enough information about this author to calculate their statistics. If you think this is an error let us know.
Learn More
Progressive myoclonus epilepsies (PME) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that are associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex with Syntaxin5, Bet1 and Sec22b. Most PME patients are homo-zygous for a p.Gly144Trp mutation and develop(More)
  • 1