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

Neurology

Volumn 79, Issue 9, 2012, Pages 946-948

  Friedman, Jennifer ^a   Olvera, Jesus ^a,b   Silhavy, Jennifer L ^a,b   Gabriel, Stacey B ^c   Gleeson, Joseph G ^a,b  

^a RADY CHILDREN'S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAFFEINE; CARBAMAZEPINE; MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CAUCASIAN; CHOREOATHETOSIS; DYSKINESIA; DYSTONIA; GENE SEQUENCE; GENOTYPING TECHNIQUE; HUMAN; MALE; MISSENSE MUTATION; MUSCLE HYPERTROPHY; NOTE; PAROXYSMAL KINESIGENIC DYSKINESIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SIBLING; STRESS; TORTICOLLIS;

EID: 84866061716     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318266fabf     Document Type: Article

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