Erro, R; Bhatia, KP; Espay, AJ; Striano, P; (2017) The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. Movement Disorders , 32 (3) pp. 310-318. 10.1002/mds.26901.

Text Bhatia_The Epileptic and Nonepileptic Spectrum of Paroxysmal Dyskinesias. Channelopathies, Synaptopathies, and Transportopathies_VoR.pdf - Published Version Access restricted to UCL open access staff Download (500kB)

Abstract

Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory. On the other hand, novel gene mutations implicating ion channels have been recently reported to produce episodic movement disorders clinically similar to the classic paroxysmal dyskinesias. Here, we review the clinical and pathophysiological aspects of the paroxysmal dyskinesias, further proposing a pathophysiological framework according to which they can be classified as synaptopathies (proline‐rich transmembrane protein 2 and myofibrillogenesis regulator gene), channelopathies (calcium‐activated potassium channel subunit alpha‐1 and voltage‐gated sodium channel type 8), or transportopathies (solute carrier family 2 member 1). This proposal might serve to explain similarities and differences among the various paroxysmal dyskinesias in terms of clinical features, treatment response, and natural history.

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