Deletions of SCN1A 5′ genomic region with promoter activity in dravet syndrome

Human Mutation

Volumn 31, Issue 7, 2010, Pages 820-829

  Nakayama, Tojo ^a,b   Ogiwara, Ikuo ^a   Ito, Koichi ^a,c   Kaneda, Makoto ^a,d   Mazaki, Emi ^a   Osaka, Hitoshi ^e   Ohtani, Hideyuki ^f   Inoue, Yushi ^f   Fujiwara, Tateki ^f   Uematsu, Mitsugu ^b   Haginoya, Kazuhiro ^b   Tsuchiya, Shigeru ^b   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

Dravet syndrome; Multiplex ligation dependent probe amplification assay; SCN1A

Indexed keywords

UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL SCN1A; NERVE PROTEIN; SCN1A PROTEIN, HUMAN; SCN1A PROTEIN, MOUSE; SODIUM CHANNEL; SODIUM CHANNEL NAV1.1;

ADULT; ANIMAL EXPERIMENT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; BRAIN REGION; CONTROLLED STUDY; DNA FLANKING REGION; DRAVET SYNDROME; EXON; FEMALE; FOCAL EPILEPSY; GENE DELETION; GENE DUPLICATION; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MOUSE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PURKINJE CELL; SEQUENCE ANALYSIS; ANIMAL; BRAIN; CELL CULTURE; CYTOLOGY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION PROFILING; GENETICS; METABOLISM; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NORTHERN BLOTTING; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SYNDROME; TRANSCRIPTION INITIATION SITE;

5' FLANKING REGION; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; BRAIN; CELLS, CULTURED; EPILEPSIES, MYOCLONIC; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION PROFILING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; PROMOTER REGIONS, GENETIC; PURKINJE CELLS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SODIUM CHANNELS; SYNDROME; TRANSCRIPTION INITIATION SITE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL;

EID: 77954105482     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21275     Document Type: Article

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