Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/11062
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dc.contributor.authorMullen, Saul Aen
dc.contributor.authorSuls, Aen
dc.contributor.authorDe Jonghe, Peteren
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorScheffer, Ingrid Een
dc.date.accessioned2015-05-16T00:38:27Z
dc.date.available2015-05-16T00:38:27Z
dc.date.issued2010-06-23en
dc.identifier.citationNeurology 2010; 75(5): 432-40en
dc.identifier.govdoc20574033en
dc.identifier.otherPUBMEDen
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/11062en
dc.description.abstractFamilial glucose transporter type 1 (GLUT1) deficiency due to autosomal dominant inheritance of SLC2A1 mutations is associated with paroxysmal exertional dyskinesia; epilepsy and intellectual disability occur in some family members. We recently demonstrated that GLUT1 deficiency occurs in over 10% of patients with early-onset absence epilepsy.This family study analyses the phenotypes in 2 kindreds segregating SLC2A1 mutations identified through probands with early-onset absence epilepsy. One comprised 9 individuals with mutations over 3 generations; the other had 6 individuals over 2 generations.Of 15 subjects with SLC2A1 mutations, epilepsy occurred in 12. Absence seizures were the most prevalent seizure type (10/12), with onset from 3 to 34 years of age. Epilepsy phenotypes varied widely, including idiopathic generalized epilepsies (IGE) with absence (8/12), myoclonic-astatic epilepsy (2/12), and focal epilepsy (2/12). Paroxysmal exertional dyskinesia occurred in 7, and was subtle and universally undiagnosed prior to molecular diagnosis. There were 2 unaffected mutation carriers.GLUT1 deficiency is an important monogenic cause of absence epilepsies with onset from early childhood to adult life. Individual cases may be phenotypically indistinguishable from common forms of IGE. Although subtle paroxysmal exertional dyskinesia is a helpful diagnostic clue, it is far from universal. The phenotypic spectrum of GLUT1 deficiency is considerably greater than previously recognized. Diagnosis of GLUT1 deficiency has important treatment and genetic counseling implications.en
dc.language.isoenen
dc.subject.otherAdolescenten
dc.subject.otherAdulten
dc.subject.otherAge of Onseten
dc.subject.otherChilden
dc.subject.otherChild, Preschoolen
dc.subject.otherChorea.cerebrospinal fluid.diagnosis.geneticsen
dc.subject.otherEpilepsy, Absence.cerebrospinal fluid.diagnosis.geneticsen
dc.subject.otherFamilyen
dc.subject.otherGlucose.cerebrospinal fluiden
dc.subject.otherGlucose Transporter Type 1.deficiency.geneticsen
dc.subject.otherHumansen
dc.subject.otherMutationen
dc.subject.otherPedigreeen
dc.subject.otherPhenotypeen
dc.subject.otherYoung Adulten
dc.titleAbsence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.en
dc.typeJournal Articleen
dc.identifier.journaltitleNeurologyen
dc.identifier.affiliationEpilepsy Research Centre, Neuroscience Building, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australiaen
dc.identifier.doi10.1212/WNL.0b013e3181eb58b4en
dc.description.pages432-40en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/20574033en
dc.type.austinJournal Articleen
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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