The clinical and genetic heterogeneity of paroxysmal dyskinesias

Brain

Volumn 138, Issue 12, 2015, Pages 3567-3580

  Gardiner, Alice R ^a   Jaffer, Fatima ^a   Dale, Russell C ^b   Labrum, Robyn ^a   Erro, Roberto ^a   Meyer, Esther ^c   Xiromerisiou, Georgia ^a,d   Stamelou, Maria ^a,d,e   Walker, Matthew ^a   Kullmann, Dimitri ^a   Warner, Tom ^a   Jarman, Paul ^a   Hanna, Mike ^a   Kurian, Manju A ^c,f   Bhatia, Kailash P ^a   Houlden, Henry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF ATHENS   (Greece)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

gene; paroxysmal movement disorder; PNKD; PRRT2; SLC2A1

Indexed keywords

MESSENGER RNA; GLUCOSE TRANSPORTER 1; MEMBRANE PROTEIN; MUSCLE PROTEIN; NERVE PROTEIN; PNKD PROTEIN, HUMAN; PRRT2 PROTEIN, HUMAN; SLC2A1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BRAIN REGION; CHILD; DYSKINESIA; EXON; FAMILIAL HEMIPLEGIC MIGRAINE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC SCREENING; HEMIPLEGIC MIGRAINE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; MYOTONIA; NONSENSE MEDIATED MRNA DECAY; PAROXYSMAL DYSKINESIA; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; SCHOOL CHILD; SLC2A1 GENE; AGED; CHOREA; GENETICS; METABOLISM; MIGRAINE WITH AURA; MUTATION; PEDIGREE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHOREA; FEMALE; GENETIC HETEROGENEITY; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MIGRAINE WITH AURA; MUSCLE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RNA, MESSENGER; YOUNG ADULT;

EID: 84951010533     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv310     Document Type: Article

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