Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

Genes, Brain and Behavior

Volumn 12, Issue 2, 2013, Pages 234-240

  Liu, X R ^a   Wu, M ^a   He, N ^a   Meng, H ^a   Wen, L ^a   Wang, J L ^b   Zhang, M P ^c   Li, W B ^a   Mao, X ^b   Qin, J M ^a   Li, B M ^a   Tang, B ^a   Deng, Y H ^a   Shi, Y W ^a   Su, T ^a   Yi, Y H ^a   Tang, B S ^b   Liao, W P ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c Foshan Women and Children Hospital ^*  (China)

Author keywords

Inheritance; Paroxysmal dyskinesias; PRRT2; Variant phenotypes

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSKINESIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; FAMILIAL DISEASE; FEBRILE CONVULSION; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HETEROZYGOTE; HUMAN; INFANT; INFANTILE CONVULSION AND PAROXYSMAL CHOREOATHETOSIS; INFANTILE NON CONVULSIVE SEIZURE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOCTURNAL SEIZURE; NUCLEOTIDE SEQUENCE; PAROXYSMAL DYSKINESIA; PAROXYSMAL KINESIGENIC DYSKINESIA; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PRRT2 GENE; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS; TRUNCATING MUTATION;

CHILD, PRESCHOOL; CHOREA; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEIZURES; SEIZURES, FEBRILE; SEQUENCE ANALYSIS, DNA;

EID: 84874194550     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/gbb.12008     Document Type: Article

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