The clinical and genetic heterogeneity of paroxysmal dyskinesias

The contributions of different genes to inherited paroxysmal movement disorders are incompletely understood. Gardiner et al. identify mutations in 47% of 145 individuals with paroxysmal dyskinesias, with PRRT2 mutations in 35%, SLC2A1 in 10% and PNKD in 2%. New mutations expand the associated phenotypes and implicate overlapping mechanisms.

• Publication year

  2015

• Venue

  Brain : a journal of neurology

• Publication date

  2015-11-18

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/brain/awv310PMID 26598494PMCID 4655345
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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