Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies

Epilepsia

Volumn 54, Issue 5, 2013, Pages

  Heron, Sarah E ^a   Ong, Yeh Sze ^a   Yendle, Simone C ^b   McMahon, Jacinta M ^b   Berkovic, Samuel F ^b   Scheffer, Ingrid E ^b   Dibbens, Leanne M ^a  

^a UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Encephalopathy; Epilepsy; Mutation; PRRT2

Indexed keywords

ARTICLE; CHILD; EPILEPSY; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INFANTILE EPILEPTIC ENCEPHALOPATHY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRRT2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE FACTORS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SPASMS, INFANTILE;

EID: 84876924176     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12167     Document Type: Article

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