MUTATION ASSOCIATED WITH EPILEPSY

The present invention concerns an isolated mammalian DNA molecule encoding a mutant ³-aminobutyric acid type A (GABA A ) receptor subunit, wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled GABA A receptor, or an otherwise functional fragment or ho...

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Bibliographische Detailangaben
Hauptverfasser:	HARKIN, LOUISE, ANNE, WALLACE, ROBYN, HEATHER, MULLEY, JOHN, CHARLES, BERKOVIC, SAMUEL, FRANK, DIBBENS, LEANNE, MICHELLE
Format:	Patent
Sprache:	eng ; fre ; ger
Schlagworte:	AGRICULTURE ANIMAL HUSBANDRY BEER BIOCHEMISTRY CARE OF BIRDS, FISHES, INSECTS CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIREDCHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERSFROM A RACEMIC MIXTURE FISHING FORESTRY HUMAN NECESSITIES HUNTING HYGIENE INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS MEDICAL OR VETERINARY SCIENCE METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING NEW BREEDS OF ANIMALS ORGANIC CHEMISTRY PEPTIDES PHYSICS PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS SPIRITS TESTING TRAPPING VINEGAR WINE
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Beschreibung
Zusammenfassung:	The present invention concerns an isolated mammalian DNA molecule encoding a mutant ³-aminobutyric acid type A (GABA A ) receptor subunit, wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled GABA A receptor, or an otherwise functional fragment or homologue thereof. The invention also concerns mutant ³-aminobutyric acid type A (GABA A ) receptor subunits and antibodies against the same. Furthermore the invention concerns the use of such DNA molecules, subunits and antibodies in diagnostic and therapeutic applications.