Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …

Abstract Congenital Disorders of Glycosylation (CDG) are an expanding and complex group
of rare genetic disorders caused by defects in the glycosylation of proteins and lipids. The …

The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of
neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is …

Subcellular membrane systems are highly enriched in dolichol, whose role in organelle
homeostasis and endosomal-lysosomal pathway remains largely unclear besides being …

Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement.
The etiology could vary considerably ranging from self‐limited to chronic or even …

Background: Variants of the NUS1 gene have recently been linked to a spectrum of
phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual …

Background: Progressive myoclonus epilepsy (PME) is a neurodegenerative disorder
marked by recurrent seizures and progressive myoclonus. To date, based on the …

Background and Objectives To assess the current diagnostic yield of genetic testing for the
progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where …

N-type voltage-gated calcium channel controls the release of neurotransmitters from
neurons. The association of other voltage-gated calcium channels with epilepsy is well …