<scp>Kinesigenic</scp> Triggers in Episodic Ataxia Type 1

Gusmão, Claudio M. de; Garcia, Lucas Rogerio; Jesuthasan, Aaron; Muir, Meaghan; Paciorkowski, Alex R.; Mink, Jonathan W.; Silveira-Moriyama, L

doi:10.1002/mdc3.13008

Cited by 1 publication

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with mutations in SLC2A1 may have multiple types of episodes often including exercise-induced and non-kinesigenic, and more rarely kinesigenic attacks ( 10 ). Kinesigenic triggers, on the other hand, may also cause episodes of ataxia in more than half of cases with EA1 associated with mutations in KCNA1 ( 38 ).…”

Section: Phenotypical Overlapmentioning

confidence: 99%

See 1 more Smart Citation

Paroxysmal Genetic Movement Disorders and Epilepsy

et al. 2021

View full text Add to dashboard Cite

Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. In the near future, it is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments.

show abstract

Section: Phenotypical Overlapmentioning

confidence: 99%

“…Interictal myokymia is a hallmark of the disease, but may not always be present. Events can be triggered by kinesigenic movement, exertion, or emotional distress ( 38 ). Episodes may fade with age, but some patients may have persistent cerebellar ataxia ( 144 , 146 ).…”

Section: Phenotypical Overlapmentioning

confidence: 99%