Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/11985
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dc.contributor.authorKim, Young Oken
dc.contributor.authorBellows, Susannahen
dc.contributor.authorMcMahon, Jacinta Men
dc.contributor.authorIona, Xeniaen
dc.contributor.authorDamiano, John Anthonyen
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorKelley, Kenten
dc.contributor.authorGill, Deepak Sen
dc.contributor.authorCross, Judith Helenen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T01:37:13Z
dc.date.available2015-05-16T01:37:13Z
dc.date.issued2013-10-25en
dc.identifier.citationDevelopmental Medicine and Child Neurology 2013; 56(1): 85-90en
dc.identifier.govdoc24328833en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/11985en
dc.description.abstractTo show that atypical multifocal Dravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (SCN1A) mutations that readily escapes diagnosis owing to later cognitive decline and tonic seizures.Eight patients underwent electroclinical characterization. SCN1A was sequenced and copy number variations sought by multiplex ligation-dependent probe amplification.All patients were female (age range at assessment 5-26y) with median seizure onset at 6.5 months (range 4-19mo). The initial seizure was brief in seven and status epilepticus only occurred in one; three were febrile. Focal seizures occurred in four patients and bilateral convulsion in the other four. All patients developed multiple focal seizure types and bilateral convulsions, with seizure clusters in six. The most common focal seizure semiology (six out of eight) comprised unilateral clonic activity. Five also had focal or asymmetric tonic seizures. Rare or transient myoclonic seizures occurred in six individuals, often triggered by specific antiepileptic drugs. Developmental slowing occurred in all: six between 3 years and 8 years, and two around 1 year 6 months. Cognitive outcome varied from severe to mild intellectual disability. Multifocal epileptiform discharges were seen on electroencephalography. Seven out of eight patients had SCN1A mutations.Atypical, multifocal Dravet syndrome with SCN1A mutations may not be recognized because of later cognitive decline and frequent tonic seizures.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherAge of Onseten
dc.subject.otherChilden
dc.subject.otherChild Developmenten
dc.subject.otherCognition Disorders.etiology.geneticsen
dc.subject.otherDNA Copy Number Variationsen
dc.subject.otherElectroencephalographyen
dc.subject.otherEpilepsies, Myoclonic.complications.diagnosis.genetics.physiopathologyen
dc.subject.otherFemaleen
dc.subject.otherHumansen
dc.subject.otherIntellectual Disability.etiology.geneticsen
dc.subject.otherMolecular Sequence Dataen
dc.subject.otherMutationen
dc.subject.otherNAV1.1 Voltage-Gated Sodium Channel.geneticsen
dc.subject.otherSeizures.genetics.physiopathologyen
dc.titleAtypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.en
dc.typeJournal Articleen
dc.identifier.journaltitleDevelopmental medicine and child neurologyen
dc.identifier.affiliationDepartment of Paediatrics, School of Medicine, Chonnam National University, Gwangju, Korea.en
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australiaen
dc.identifier.doi10.1111/dmcn.12322en
dc.description.pages85-90en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/24328833en
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.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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