Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome

Human Mutation

Volumn 36, Issue 9, 2015, Pages 861-872

  Xu, Xiaojing ^a   Yang, Xiaoxu ^b   Wu, Qixi ^c   Liu, Aijie ^a   Yang, Xiaoling ^a   Ye, Adam Yongxin ^b,d   Huang, August Yue ^c   Li, Jiarui ^b   Wang, Meng ^b   Yu, Zhe ^c   Wang, Sheng ^c,e   Zhang, Zhichao ^a   Wu, Xiru ^a   Wei, Liping ^b,c   Zhang, Yuehua ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNIVERSITY   (China)

^c NATIONAL INSTITUTE OF BIOLOGICAL SCIENCES   (China)

^d Tsinghua University   (China)

^e CHINA AGRICULTURAL UNIVERSITY   (China)

Author keywords

de novo; Dravet syndrome; Mosaic; Next generation sequencing; SCN1A; Somatic mutation

Indexed keywords

DNA; GENOMIC DNA; SODIUM CHANNEL NAV1.1; SCN1A PROTEIN, HUMAN;

ALLELE; AMPLICON; ARTICLE; BLOOD ANALYSIS; COHORT ANALYSIS; DE NOVO MUTATION; FEBRILE CONVULSION; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GERM CELL; HAIR FOLLICLE; HUMAN; HUMAN CELL; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; MOUTH MUCOSA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; PARENTAL MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; SALIVA ANALYSIS; SANGER SEQUENCING; SEMEN ANALYSIS; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SOMATIC CELL; URINALYSIS; CHILD; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; MYOCLONUS EPILEPSY; PEDIGREE; REPRODUCIBILITY;

ALLELES; CHILD; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MOSAICISM; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84938962593     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22819     Document Type: Article

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