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Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized by short episodes of ataxia with interictal myokymia, where...

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Detalles Bibliográficos
Autores principales: Nielsen, Emilie Neerup, Ásbjörnsdóttir, Birna, Møller, Lisbeth Birk, Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632360/
https://www.ncbi.nlm.nih.gov/pubmed/36307210
http://dx.doi.org/10.1101/mcs.a006236

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