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dc.contributor.authorKivity, Sara-
dc.contributor.authorOliver, Karen L-
dc.contributor.authorAfawi, Zaid-
dc.contributor.authorDamiano, John A-
dc.contributor.authorArsov, Todor-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorBerkovic, Samuel F-
dc.identifier.citationEpilepsy Research 2017; 131: 9-14en_US
dc.description.abstractAmongst autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) families, SCN1A variants are the most common genetic cause. Initially regarded as a generalized form of epilepsy, the GEFS+ spectrum is now known to include some focal epilepsies, but it is generally not conceptualized as extending to the self-limited focal epilepsies of childhood, such as Panayiotopoulos syndrome. There are, however, three reports of SCN1A variants in Panayiotopoulos syndrome. We describe the variable clinical phenotypes that include the self-limited focal epilepsies of childhood, present in a large GEFS+ family, segregating a heterozygous SCN1A missense variant. MATERIAL AND METHODS: Electro-clinical details on all putatively affected family members were sought and blood samples were taken for genetic analysis. Two individuals were chosen for SCN1A testing. All 26 exons and exon-intron junctions were amplified, sequenced and analyzed. This was followed by pedigree segregation analysis of the variant identified. RESULTS: A pathogenic heterozygous SCN1A (c.2624C>A; p.Thr875Lys) variant was identified. Sixteen of the 18 variant positive family members were affected (88% penetrance): 8 with febrile seizures, 2 febrile seizures plus, 1 unclassified seizures and 5 with self-limited focal epilepsy of childhood. Of these, one was diagnosed with atypical childhood epilepsy with centrotemporal spikes and four with Panayiotopoulos syndrome. DISCUSSION: By characterizing the heterogeneous clinical phenotypes in a large, SCN1A mutation positive GEFS+ family, we conclude that the GEFS+ spectrum can extend to the self-limited focal epilepsies of childhood, including Panayiotopoulos syndrome, and in turn highlight the complex genotype-phenotype correlations associated with SCN1A-related epilepsies.en_US
dc.subjectPanayiotopoulos syndromeen_US
dc.titleSCN1A clinical spectrum includes the self-limited focal epilepsies of childhooden_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleEpilepsy Researchen_US
dc.identifier.affiliationEpilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israelen_US
dc.identifier.affiliationEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationSackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israelen_US
dc.identifier.affiliationPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Medical Biology, University of Melbourne, Melbourne, Victoria, Australiaen_US
dc.type.austinJournal Articleen_US
item.openairetypeJournal Article-
item.fulltextNo Fulltext- Research Centre-
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