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Neurology DOI:10.1212/WNL.0b013e318266fabf

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Publication TypeJournal Article
Year of Publication2012
AuthorsFriedman, J, Olvera, J, Silhavy, JL, Gabriel, SB, Gleeson, JG
JournalNeurology
Volume79
Issue9
Pages946-8
Date Published2012 Aug 28
ISSN1526-632X
KeywordsDNA, Dystonia, Family, Genotype, Humans, Male, Membrane Proteins, Mutation, Missense, Nerve Tissue Proteins, Penetrance, Triplets, Young Adult
URLhttp://www.neurology.org/cgi/pmidlookup?view=long&pmid=22895590
DOI10.1212/WNL.0b013e318266fabf
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/22895590?dopt=Abstract

Alternate JournalNeurology
PubMed ID22895590
PubMed Central IDPMC3425846
Grant ListU54 HG003067 / HG / NHGRI NIH HHS / United States
R01NS048453 / NS / NINDS NIH HHS / United States
U54HG003067 / HG / NHGRI NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
R01NS052455 / NS / NINDS NIH HHS / United States