Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10747
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dc.contributor.authorMullen, Saul Aen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T00:17:41Z
dc.date.available2015-05-16T00:17:41Z
dc.date.issued2009-01-01en
dc.identifier.citationArchives of Neurology; 66(1): 21-6en
dc.identifier.govdoc19139296en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/10747en
dc.description.abstractVoltage-gated sodium channels are critical for membrane excitability. Mutations in the genes coding for these proteins cause diseases related to altered excitability of cardiac or skeletal muscle and neurons. Mutations in the central nervous system-specific voltage-gated sodium channel alpha1 subunit gene (SCN1A) lead not only to seizure syndromes but also to familial hemiplegic migraine. The epilepsies range from benign febrile seizures to the catastrophic epileptic encephalopathy of Dravet syndrome (severe myoclonic epilepsy of infancy). Recently developed animal models of SCN1A mutants recapitulate the human disease. These models exemplify the potential inherent in translational research to debunk preconceived ideas regarding pathogenesis by showing the cellular substrate of Dravet syndrome to be interneurons rather than excitatory cells. This illustrates the key role that basic science plays in the development of targeted novel therapies and, ultimately, in the prevention of devastating genetic disorders.en
dc.language.isoenen
dc.subject.otherAnimalsen
dc.subject.otherBrain.metabolism.physiopathologyen
dc.subject.otherBrain Chemistry.geneticsen
dc.subject.otherDisease Models, Animalen
dc.subject.otherEpilepsy.genetics.metabolism.physiopathologyen
dc.subject.otherGenetic Predisposition to Disease.geneticsen
dc.subject.otherHumansen
dc.subject.otherInterneurons.metabolismen
dc.subject.otherMiceen
dc.subject.otherMutation.geneticsen
dc.subject.otherNAV1.1 Voltage-Gated Sodium Channelen
dc.subject.otherNerve Tissue Proteins.geneticsen
dc.subject.otherSodium Channels.geneticsen
dc.titleTranslational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.en
dc.typeJournal Articleen
dc.identifier.journaltitleArchives of neurologyen
dc.identifier.affiliationEpilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3081, Australiaen
dc.identifier.doi10.1001/archneurol.2008.559en
dc.description.pages21-6en
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/19139296en
Appears in Collections:Journal articles

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