Novel mutation

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 muta...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: WALLACE ROBYN HEATHER, MULLEY JOHN CHARLES, SCHEFFER INGRID EILEEN
Format: Patent
Sprache:eng
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Beschreibung
Zusammenfassung: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.