'North Sea' progressive myoclonus epilepsy: Phenotype of subjects with GOSR2 mutation

Brain

Volumn 136, Issue 4, 2013, Pages 1146-1154

  Boissé Lomax, Lysa ^a   Bayly, Marta A ^b   Hjalgrim, Helle ^c,d   Møller, Rikke S ^c   Vlaar, Annemarie M ^e   Aaberg, Kari M ^f   Marquardt, Iris ^g   Gandolfo, Luke C ^h   Willemsen, Michèl ⁱ   Kamsteeg, Erik Jan ^j   O'Sullivan, John D ^k   Korenke, G Christoph ^g   Bloem, Bastiaan R ⁱ   De Coo, Irenaeus F ^l   Verhagen, Judith M A ^l   Said, Ines ^e   Prescott, Trine ^f   Stray Pedersen, Asbjørg ^f   Rasmussen, Magnhild ^f   Vears, Danya F ^a   Lehesjoki, Anna Elina ^m   Corbett, Mark A ⁿ   Bahlo, Melanie ^a,h   Gecz, Jozef ^n,o,p   Dibbens, Leanne M ^b   Berkovic, Samuel F ^a   more..

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^c DANISH EPILEPSY CENTRE   (Denmark)

^d UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^e Department of Neurology St Lucas Andreas ^*  (Netherlands)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g KLINIKUM OLDENBURG   (Germany)

^h WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

ⁱ RADBOUD UNIVERSITY   (Netherlands)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k UNIVERSITY OF QUEENSLAND   (Australia)

^l ERASMUS MEDICAL CENTER   (Netherlands)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ Genetics and Molecular Pathology   (Australia)

^o UNIVERSITY OF ADELAIDE   (Australia)

^p Women's and Children's Health Research Institute   (Australia)

more..

Author keywords

creatine kinase; electroencephalography; GOSR2; progressive myoclonus epilepsy; scoliosis

Indexed keywords

CREATINE KINASE; ETIRACETAM; GOLGI SNAP RECEPTOR COMPLEX 2 PROTEIN; SNARE PROTEIN; UNCLASSIFIED DRUG; ZONISAMIDE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DROP ATTACK; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SKELETON MALFORMATION; SYNDACTYLY; TONIC CLONIC SEIZURE;

EID: 84876021086     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt021     Document Type: Article

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