Novel mutation
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United States of America Patent
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Issued Date -
Sep 30, 2004
app pub date -
May 5, 2004
filing date -
May 10, 2001
priority date (Note) -
Abandoned
status (Latency Note)
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Abstract
An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.
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