Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9718
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dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorHeron, Sarah Een
dc.contributor.authorGiordano, Lucioen
dc.contributor.authorMarini, Carlaen
dc.contributor.authorGuerrini, Renzoen
dc.contributor.authorKaplan, Robert Een
dc.contributor.authorGambardella, Antonioen
dc.contributor.authorSteinlein, Ortrud Ken
dc.contributor.authorGrinton, Bronwyn Een
dc.contributor.authorDean, Joanne Ten
dc.contributor.authorBordo, Lauraen
dc.contributor.authorHodgson, Bree Len
dc.contributor.authorYamamoto, Toshiyukien
dc.contributor.authorMulley, John Cen
dc.contributor.authorZara, Federicoen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-15T22:54:53Z
dc.date.available2015-05-15T22:54:53Z
dc.date.issued2004-04-01en
dc.identifier.citationAnnals of Neurology; 55(4): 550-7en
dc.identifier.govdoc15048894en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/9718en
dc.description.abstractWe recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal-infantile seizures (BFNISs). Here, we aimed to refine the molecular-clinical correlation of SCN2A mutations in early childhood epilepsies. SCN2A was analyzed in 2 families with probable BFNIS, 9 with possible BFNIS, 10 with benign familial infantile seizures, and in 93 additional families with various early childhood epilepsies. Mutations effecting changes in conserved amino acids were found in two of two probable BFNIS families, in four of nine possible BFNIS families, and in none of the others. Our eight families had six different SCN2A mutations; one mutation (R1319Q) occurred in three families. BFNIS is an autosomal dominant disorder presenting between day 2 and 7 months (mean, 11.2 +/- 9.2 weeks) with afebrile secondarily generalized partial seizures; neonatal seizures were not seen in all families. The frequency of seizures varied; some individuals had only a few attacks without treatment and others had clusters of many per day. Febrile seizures were rare. All cases remitted by 12 months. Ictal recordings in four subjects showed onset in the posterior quadrants. SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherDNA Mutational Analysisen
dc.subject.otherElectroencephalography.methodsen
dc.subject.otherEpilepsy, Benign Neonatal.genetics.pathology.physiopathologyen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherInfanten
dc.subject.otherMaleen
dc.subject.otherMiddle Ageden
dc.subject.otherMutation, Missenseen
dc.subject.otherNAV1.2 Voltage-Gated Sodium Channelen
dc.subject.otherNerve Tissue Proteins.chemistry.geneticsen
dc.subject.otherPedigreeen
dc.subject.otherSodium Channels.chemistry.geneticsen
dc.titleBenign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.en
dc.typeJournal Articleen
dc.identifier.journaltitleAnnals of Neurologyen
dc.identifier.affiliationEpilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australiaen
dc.identifier.doi10.1002/ana.20029en
dc.description.pages550-7en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/15048894en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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