Sodium-channel alpha 1-subunit and their polypeptides and their treatment of generalised epilepsy with febrile seizures plus

Mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. Methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.

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Bibliographische Detailangaben
Hauptverfasser:	MULLEY, JOHN CHARLES, BERKOVIC, SAMUEL, WALLACE, ROBYN HEATHER
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 DERIVATIVES THEREOF 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 NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES 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 SUGARS TESTING TRAPPING VINEGAR WINE
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Beschreibung
Zusammenfassung:	Mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. Methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.