Unusual variability of PRRT2 linked phenotypes within a family

European Journal of Paediatric Neurology

Volumn 18, Issue 4, 2014, Pages 540-542

  Brueckner, Frieder ^a   Kohl, Bernhard ^a   Puest, Burkhard ^a   Gassner, Silke ^a   Osseforth, Judith ^b   Lindenau, Matthias ^b   Stodieck, Stefan ^b   Biskup, Saskia ^c,d   Lohmann, Ebba ^b,c,d,e  

^a Katholisches Kinderkrankenhaus Wilhelmstift   (Germany)

^b Zentrum Integrative Kinderschmerztherapie und Palliativmedizin   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^e ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Asymptomatic mutation carrier; Benign infantile familial convulsions; Mutation; Paroxysmal kinesigenic dyskinesias; Phenotype; PRRT2

Indexed keywords

CARBAMAZEPINE; PHENOBARBITAL; MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BRAIN TUMOR; BREAST CANCER; CHROMOSOME 16P; CLINICAL ARTICLE; CONVULSION; CYANOSIS; DRUG ERUPTION; ELECTROENCEPHALOGRAPHY; EXERCISE; FAMILY; FAMILY HISTORY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE; GENE MUTATION; GENETIC VARIABILITY; GERMANY; HEADACHE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MEMORY DISORDER; NEUROPSYCHOLOGICAL TEST; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRIORITY JOURNAL; PROLINE RICH TRANSMEMBRANE PROTEIN 2 GENE; PUBERTY; REST; SPEECH DISORDER; TELEPHONE INTERVIEW; TONIC CLONIC SEIZURE; WECHSLER INTELLIGENCE SCALE; WORKING MEMORY; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILD; CHOREA; COMPLICATION; DYSKINESIA; FAMILY HEALTH; GENETICS; MUTATION; SEIZURE;

ADOLESCENT; ADULT; CHILD; CHOREA; DYSKINESIAS; EPILEPSY, BENIGN NEONATAL; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES;

EID: 84903161708     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.03.012     Document Type: Article

References (5)

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5. T. Djémié, S. Weckhuysen, and P. Holmgren et al. PRRT2 mutations: exploring the phenotypical boundaries J Neurol Neurosurg Psychiatry 85 4 2014 Apr 462 465