Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.
Department of Neurology, MS Center, and Laboratory of Neuroimmunology and the Agnes-Ginges Center for Neurogenetics, Hadassah-Hebrew University Medical Center, Ein-Karem, Jerusalem, Israel. jrfriedman@rchsd.org
Jennifer
J
Friedman
Jesus
J
Olvera
Jennifer L
JL
Silhavy
Stacey B
SB
Gabriel
Joseph G
JG
Gleeson
D004247:DNA / Q000235:genetics; D004421:Dystonia / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D020125:Mutation, Missense / Q000502:physiology*; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D019683:Penetrance; D014310:Triplets; D055815:Young Adult
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human; D004247:DNA