A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding

Human Genetics

Volumn 133, Issue 6, 2014, Pages 801-811

  Zeng, Tao ^a   Dong, Zhao Fei ^a   Liu, Shu Jing ^a   Wan, Rui Ping ^a   Tang, Ling Jia ^a   Liu, Ting ^a   Zhao, Qi Hua ^a   Shi, Yi Wu ^a   Yi, Yong Hong ^a   Liao, Wei Ping ^a   Long, Yue Sheng ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; MESSENGER RNA; SHORT HAIRPIN RNA; SODIUM CHANNEL NAV1.1;

3' UNTRANSLATED REGION; ABSENCE; ALLELE; ARTICLE; CASE REPORT; CHILD; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; ENZYME BINDING; FEMALE; GENE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MUTATION; GENE SILENCING; GENETIC CONSERVATION; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; REPORTER GENE; RNA PROCESSING; RNA STABILITY; RNA STRUCTURE; SCHOOL CHILD; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SPECIES DIFFERENCE; TONIC CLONIC SEIZURE; WILD TYPE;

3' UNTRANSLATED REGIONS; ALLELES; BASE SEQUENCE; BINDING SITES; CHILD; EPILEPSIES, MYOCLONIC; FEMALE; GENE EXPRESSION REGULATION; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASES; HAPLOINSUFFICIENCY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PROTEIN BINDING; RNA STABILITY; RNA, SMALL INTERFERING;

EID: 84901198616     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1422-8     Document Type: Article

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