Clinical/scientific notes

Neurology

Volumn 79, Issue 21, 2012, Pages 2154-2155

  De Vries, Boukje ^a   Callenbach, Petra M C ^c   Kamphorst, Jessica T ^a   Weller, Claudia M ^a   Koelewijn, Stephany C ^a   Ten Houten, Robert ^d   De Coo, Irenaeus F M ^e   Brouwer, Oebo F ^c   Van Den Maagdenberg, Arn M J M ^a,b  

^a Human Genetics   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d Location Alkmaar   (Netherlands)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ANTICONVULSANT THERAPY; BENIGN CHILDHOOD EPILEPSY; BENIGN FAMILIAL INFANTILE CONVULSION; CHROMOSOME 16P; DNA SEQUENCE; GENE LOCUS; GENE MUTATION; HUMAN; NOTE; PRIORITY JOURNAL; PROTEIN BINDING; ARTICLE; CHOREA; FEMALE; GENETICS; INFANT; MALE; MUTATION; PEDIGREE;

CHOREA; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84871327554     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182752c30     Document Type: Article

References (7)

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3. Callenbach PMC, van den Boogerd EH, de Coo RFM, et al. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet 2005;67:517-525.
4. Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-3501.
5. Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.
6. Lee H-Y, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12.
7. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012; 90:152-160.