Reduced Penetrance of PRRT2 Mutation in a Chinese Family with Infantile Convulsion and Choreoathetosis Syndrome

Journal of Child Neurology

Volumn 30, Issue 10, 2015, Pages 1263-1269

  Zhang, L M ^a   An, Y ^b   Pan, G ^a   Ding, Y F ^a   Zhou, Y F ^a   Yao, Y H ^b   Wu, B L ^b   Zhou, S Z ^a  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

benign familial infantile epilepsy; infantile convulsions and choreoathetosis syndrome; paroxysmal kinesigenic dyskinesia; PRRT2

Indexed keywords

ETIRACETAM; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PROLINE RICH PROTEIN; PRRT2 PROTEIN; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ANTICONVULSANT THERAPY; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CHILD; CHILDHOOD; CHINESE; CHOREA; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONVULSION; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INFANTILE CONVULSION AND CHOREOATHETOSIS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL KINESIGENIC DYSKINESIA; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SYMPTOM; TREATMENT RESPONSE; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CASE REPORT; CHINA; DNA MUTATIONAL ANALYSIS; DYSKINESIA; GENETICS; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DYSKINESIAS; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; FAMILY; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES;

EID: 84939486553     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073814556887     Document Type: Article

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