Mosaic mutations in early-onset genetic diseases

Genetics in Medicine

Volumn 18, Issue 7, 2016, Pages 746-749

  Halvorsen, Matt ^a   Petrovski, Slavé ^a,b   Shellhaas, Renée ^c   Tang, Yingying ^d,e   Crandall, Laura ^f,g   Goldstein, David ^a   Devinsky, Orrin ^g  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF MICHIGAN   (United States)

^d Office of Chief Medical Examiner New York   (United States)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f SUDC Foundation   (United States)

^g NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

epilepsy; mosaic; mutation; sudden unexplained death in childhood; whole exome sequencing

Indexed keywords

AMOXICILLIN; CLOBAZAM; GABA TRANSPORTER 1; SODIUM CHANNEL NAV1.1; VALPROIC ACID; SCN1A PROTEIN, HUMAN;

ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CHILD DEATH; CLINICAL ARTICLE; COHORT ANALYSIS; CYTOPLASM; EPILEPTIC STATE; FAMILIAL DISEASE; FEBRILE CONVULSION; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; KETOGENIC DIET; MALE; MOSAICISM; ONSET AGE; OTITIS MEDIA; PRESCHOOL CHILD; PROTEIN DOMAIN; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SUDDEN DEATH; SUDDEN UNEXPLAINED DEATH IN CHILDHOOD; BRUGADA SYNDROME; GENETICS; MORTALITY; MUTATION; MYOCLONUS EPILEPSY; PATHOLOGY; PEDIGREE; SIBLING;

AGE OF ONSET; ALLELES; BRUGADA SYNDROME; EPILEPSIES, MYOCLONIC; FEMALE; HUMANS; MALE; MOSAICISM; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; SIBLINGS;

EID: 84977079621     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.155     Document Type: Article

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