Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16614
Title: SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
Austin Authors: Kivity, Sara;Oliver, Karen L;Afawi, Zaid;Damiano, John A;Arsov, Todor;Bahlo, Melanie;Berkovic, Samuel F 
Affiliation: Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel
Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia
Issue Date: Mar-2017
metadata.dc.date: 2017-02-04
Publication information: Epilepsy Research 2017; 131: 9-14
Abstract: Amongst 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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/16614
DOI: 10.1016/j.eplepsyres.2017.01.012
ORCID: 0000-0002-1121-9513
0000-0001-5132-0774
0000-0003-4580-841X
PubMed URL: https://pubmed.ncbi.nlm.nih.gov/28192756
Type: Journal Article
Subjects: Consanguinity
GEFS+
Panayiotopoulos syndrome
SCN1A
Appears in Collections:Journal articles

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