North Sea progressive myoclonus epilepsy

Hyperkinetic Movement Disorders

Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020

Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson

Myoclonus, ataxia with relatively preserved cognition: Common causes: Unverricht–Lundborg disease (Baltic myoclonus).Myoclonic epilepsy with ragged red fibers (MERRF).Postanoxic myoclonus.Spinocerebellar degenerations.Uncommon causes: CD.MSA.GM2 gangliosidosis.NCL.DRPLA.North Sea progressive myoclonus epilepsy (GOSR2 mutations).Action myoclonus renal failure syndrome.MEAK syndrome (KCNC1 mutations).SCA14 (PRKCG mutations).POLG mutations.PRICKLE1 mutations.ASAH1 mutations.KCTD7 mutations.LMNB2 mutations.SLC25A46 mutations.

Emerging treatments for progressive myoclonus epilepsies

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Journal Information

Published in Expert Review of Neurotherapeutics, 2020

Antonella Riva, Alberto Guglielmo, Ganna Balagura, Francesca Marchese, Elisabetta Amadori, Michele Iacomino, Berge Arakel Minassian, Federico Zara, Pasquale Striano

North Sea Progressive Myoclonus Epilepsy (NSPME) is a rare and severe disorder, mostly caused by homozygous mutations in the GOSR2 gene, a Golgi vesicle transport gene, encoding the Golgi SNAP Receptor Complex Member 2 protein. Clinically, NSPME is characterized by progressive myoclonus, early-onset ataxia, areflexia, and seizures, which are relatively mild compared to myoclonic jerks [3]. Anti-epileptic drugs are used to treat both myoclonic jerks and seizures, but the benefits are disappointingly limited [27].

North Sea progressive myoclonus epilepsy

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Hyperkinetic Movement Disorders

Emerging treatments for progressive myoclonus epilepsies