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European Journal of Paediatric Neurology

Volumn 13, Issue 6, 2009, Pages 559-561

Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene

(5) Thümmler, Susanne a Giuliano, Fabienne b Pincemaille, Olivier c Saugier Veber, Pascale d Perelman, Serge a

a Fondation Lenval Hopital pour Enfants (France)

b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE (France)

c Pediatric Department (France)

d ROUEN UNIVERSITY HOSPITAL (France)

Author keywords

Children; Epsilon sarcoglycan; Movement disorder; Myoclonus dystonia; Valproic acid

Indexed keywords

EPSILON SARCOGLYCAN; VALPROIC ACID;

ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; DIZYGOTIC TWINS; ELECTROENCEPHALOGRAPHY; EXON; FAMILY HISTORY; FEMALE; GENE; GENE SEQUENCE; HAIR LOSS; HUMAN; INVOLUNTARY MOVEMENT; MALE; MYOCLONUS DYSTONIA; MYOCLONUS EPILEPSY; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; SGCE GENE; TASK PERFORMANCE; TODDLER;

CHILD, PRESCHOOL; DISEASES IN TWINS; ELECTROENCEPHALOGRAPHY; FEMALE; FRANCE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; MYOCLONUS; SARCOGLYCANS; TWINS, DIZYGOTIC;

EID: 70350749516 PISSN: 10903798 EISSN: 15322130 Source Type: Journal
DOI: 10.1016/j.ejpn.2008.11.009 Document Type: Article

Times cited : (7)

References (6)

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