Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/11453
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dc.contributor.authorCarranza Rojo, Danielen
dc.contributor.authorHarvey, A Simonen
dc.contributor.authorIona, Xeniaen
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorDamiano, John Anthonyen
dc.contributor.authorArsov, Todoren
dc.contributor.authorGill, Deepak Sen
dc.contributor.authorFreeman, Jeremy Len
dc.contributor.authorLeventer, Richard Jen
dc.contributor.authorVincent, Angelaen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorMcMahon, Jacinta Men
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T01:03:52Z
dc.date.available2015-05-16T01:03:52Z
dc.date.issued2012-03-03en
dc.identifier.citationEpilepsy Research 2012; 100(1-2): 194-8en
dc.identifier.govdoc22386634en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/11453en
dc.description.abstractTwo distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (FIRES) and Dravet syndrome (DS), present with febrile status epilepticus in a normal child followed by refractory focal seizures and cognitive decline although there are differentiating features. Abnormalities of the sodium channel gene SCN1A are found in 75% of DS patients. We found no SCN1A mutations or copy number variants in 10 patients with FIRES. Other genetic etiologies deserve consideration.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherChild, Preschoolen
dc.subject.otherDiagnosis, Differentialen
dc.subject.otherEpilepsies, Myoclonic.geneticsen
dc.subject.otherHumansen
dc.subject.otherMutation.geneticsen
dc.subject.otherNAV1.1 Voltage-Gated Sodium Channel.geneticsen
dc.subject.otherSeizures, Febrile.diagnosis.geneticsen
dc.subject.otherYoung Adulten
dc.titleFebrile infection-related epilepsy syndrome is not caused by SCN1A mutations.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsy researchen
dc.identifier.affiliationEpilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.doi10.1016/j.eplepsyres.2012.02.007en
dc.description.pages194-8en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/22386634en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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