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

Neurology

Authors	Jennifer Friedman Jesus Olvera Jennifer Silhavy Stacey Gabriel Joseph Gleeson
Keywords	Humans Male DNA Genotype Young Adult Membrane Proteins Penetrance Family Mutation, Missense Nerve Tissue Proteins Dystonia Triplets
Year of Publication	2012
Journal	Neurology
Volume	79
Issue	9
Pages	946-8
Date Published	2012 Aug 28
ISSN	1526-632X
URL	http://www.neurology.org/cgi/pmidlookup?view=long&pmid=22895590
DOI	10.1212/WNL.0b013e318266fabf
PubMed ID	22895590
PubMed Central ID	PMC3425846
Links	DOI Google Scholar PubMed
Grant list	U54 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

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