Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a missense mutation is shown in the KCNA1 gene. The att...

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Detalhes bibliográficos

Publicado no:	J Neurol Neurosurg Psychiatry
Principais autores:	Lubbers, W J, Brunt, E R, Scheffer, H, Litt, M, Stulp, R, Browne, D L, van Weerden, T W
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1995
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC486077/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7561920/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.59.4.400
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