Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures

Genes, Brain and Behavior

Volumn 11, Issue 2, 2012, Pages 170-176

  Shi, Y W ^a   Yu, M J ^a   Long, Y S ^a   Qin, B ^b   He, N ^a   Meng, H ^a   Liu, X R ^a   Deng, W Y ^a   Gao, M M ^a   Yi, Y H ^a   Li, B M ^a   Liao, W P ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Mosaicism; Partial epilepsy with antecedent febrile seizures; Recurrent transmission; SCN1A mutation

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.1;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARTIAL EPILEPSY WITH ANTECEDENT FEBRILE SEIZURE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PYROSEQUENCING; RECURRENCE RISK; SCHOOL CHILD; SEQUENCE ALIGNMENT; SPLICING DEFECT;

CHILD; EPILEPSIES, PARTIAL; FEMALE; GENOTYPE; HUMANS; MALE; MOSAICISM; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS; YOUNG ADULT;

EID: 84856351077     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2011.00756.x     Document Type: Article

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