Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/16614
Title: SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
Authors: Kivity, Sara;Oliver, Karen L;Afawi, Zaid;Damiano, John A;Arsov, Todor;Bahlo, Melanie;Berkovic, Samuel F
Issue Date: Mar-2017
EDate: 2017-02-04
Citation: 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://www.ncbi.nlm.nih.gov/pubmed/28192756
Type: Journal Article
Subjects: Consanguinity
GEFS+
Panayiotopoulos syndrome
SCN1A
Appears in Collections:Journal articles

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