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
DOI
10.1212/WNL.0b013e318266fabf
PubMed ID
22895590
PubMed Central ID
PMC3425846
Links
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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