Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy

American Journal of Medical Genetics, Part A

Volumn 146, Issue 18, 2008, Pages 2421-2423

  McArdle, Erin J ^a   Kunic, Jennifer D ^a   George Jr , Alfred L ^a,b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b 529 Light Hall ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE; PROTEIN; RNA; NERVE PROTEIN; SODIUM CHANNEL; SODIUM CHANNEL, VOLTAGE GATED, TYPE I, ALPHA PROTEIN; SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, ALPHA PROTEIN;

ALLELE; AUTOPSY; BRAIN TISSUE; CEREBELLUM; CODON; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; HUMAN; INFANCY; LETTER; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SAMPLE; SCN1A GENE; ADULT; ARTICLE; CASE REPORT; FEMALE; GENE EXPRESSION; GENETICS; MALE; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMANS; MALE; NERVE TISSUE PROTEINS; SODIUM CHANNELS;

EID: 51449116566     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32448     Document Type: Letter

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