Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9531
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dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-15T22:39:31Z
dc.date.available2015-05-15T22:39:31Z
dc.date.issued2003-08-01en
dc.identifier.citationTrends in Pharmacological Sciences; 24(8): 428-33en
dc.identifier.govdoc12915053en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/9531en
dc.description.abstractIn recent years genetic discoveries have shown the central role of ion channels in the pathophysiology of idiopathic epilepsies. Uncommon epilepsy syndromes that have monogenic inheritance are associated with mutations in genes that encode subunits of voltage-gated and ligand-gated ion channels. For voltage-gated ion channels, mutations of Na(+), K(+) and Cl(-) channels are associated with forms of generalized epilepsy and infantile seizure syndromes. Ligand-gated ion channels, such as nicotinic acetylcholine receptors and GABA receptor subunits, are associated with specific syndromes of frontal and generalized epilepsies, respectively. Striking features are the variable epilepsy phenotypes that are associated with the known gene mutations and the genetic heterogeneity that underlies all known monogenic syndromes. Mutations in two genes that do not encode ion channels have been identified in the idiopathic human epilepsies. The heterogeneity of mutations described to date has precluded the development of simple diagnostic tests, but advances in the next few years are likely to have an impact on both the clinical diagnosis and the treatment of epilepsies.en
dc.language.isoenen
dc.subject.otherCalcium Channels.genetics.physiologyen
dc.subject.otherChloride Channels.genetics.physiologyen
dc.subject.otherEpilepsy.genetics.metabolismen
dc.subject.otherHumansen
dc.subject.otherLigandsen
dc.subject.otherMutationen
dc.subject.otherPotassium Channels, Voltage-Gated.genetics.physiologyen
dc.subject.otherReceptors, GABA.genetics.physiologyen
dc.subject.otherReceptors, Nicotinic.genetics.physiologyen
dc.subject.otherSodium Channels.genetics.physiologyen
dc.titleThe genetics of human epilepsy.en
dc.typeJournal Articleen
dc.identifier.journaltitleTrends in pharmacological sciencesen
dc.identifier.affiliationDepartment of Medicine (Neurology), The University of Melbourne, Epilepsy Research Institute, Austin & Repatriation Medical Centre, Australiaen
dc.identifier.doi10.1016/S0165-6147(03)00194-9en
dc.description.pages428-33en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/12915053en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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