Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations

Developmental Medicine and Child Neurology

Volumn 55, Issue 4, 2013, Pages 327-334

  Silveira Moriyama, Laura ^a   Gardiner, Alice R ^b   Meyer, Esther ^c   King, Mary D ^d,e   Smith, Martin ^f   Rakshi, Karl ^g   Parker, Alasdair ^h   Mallick, Andrew A ⁱ   Brown, Richard ^j   Vassallo, Grace ^k   Jardine, Philip E ⁱ   Guerreiro, Marilisa M ^l   Lees, Andrew J ^a   Houlden, Henry ^b   Kurian, Manju A ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g ROYAL BLACKBURN HOSPITAL   (United Kingdom)

^h CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^j PETERBOROUGH CITY HOSPITAL   (United Kingdom)

^k ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF CAMPINAS   (Brazil)

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Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONVULSION; DYSKINESIA; DYSTONIA; FAMILIAL HEMIPLEGIC MIGRAINE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; DYSKINESIAS; EPILEPSY, BENIGN NEONATAL; FEMALE; FRAMESHIFT MUTATION; GREAT BRITAIN; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MIGRAINE WITH AURA; MOVEMENT DISORDERS; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES; YOUNG ADULT;

EID: 84875056061     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12056     Document Type: Article

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