A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

In 2011, a homozygous mutation in GOSR2 (c.430G  > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been rep orted in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients.

Source: Parkinsonism and Related Disorders - February 17, 2020 Category: Neurology Authors: Sjoukje S. Polet, David G. Anderson, Lisette H. Koens, Martje E. van Egmond, Gea Drost, Esther Brusse, Mich èl AAP. Willemsen, Deborah A. Sival, Oebele F. Brouwer, Hubertus PH. Kremer, Jeroen J. de Vries, Marina AJ. Tijssen, Tom J. de Koning Source Type: research