MUTATIONS IN ION CHANNELS

A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set...

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Bibliographische Detailangaben
Hauptverfasser:	BERKOVIC, SAMUEL FRANK, WALLACE, ROBYN, MULLEY, JOHN CHARLES, SCHEFFER, INGRID EILEEN, HERON, SARAH ELIZABETH, DIBBENS, LEANNE MICHELLE, PHILLIPS, HILARY ANNE, HARKIN, LOUISE ANNE
Format:	Patent
Sprache:	eng ; fre
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:	A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134. L'invention concerne un procédé d'identification d'un sujet présentant une prédisposition à un trouble associé à un dysfonctionnement de canaux ioniques, consistant à déterminer si au moins un des gènes codant des sous-unités de canaux ioniques dudit sujet, a subi un événement de mutation, tel qu'un ADNc provenant dudit sujet présentant la séquence indiquée dans l'une des séquences SEQ ID NOS: 1-134.