Article
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia.
Neuroscience - 15 Dec 2019
Lambrechts Roald A, Polet Sjoukje S, Hernandez-Pichardo Alejandra, van Ninhuys Lisa, Gorter Jenke A, Grzeschik Nicola A, de Koning-Tijssen Marina A J, de Koning Tom J, Sibon Ody C M
Abstract excerpt
Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation in the gene coding for Golgi SNAP receptor 2 (GOSR2), gives rise to a PME-subtype prevalent in Northern Europe and hence referred to as North Sea Progressive Myoclonic...
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