Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16548
Title: De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndrome
Austin Authors: Myers, Kenneth A;Burgess, Rosemary;Afawi, Zaid;Damiano, John A;Berkovic, Samuel F ;Hildebrand, Michael S ;Scheffer, Ingrid E 
Affiliation: Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Tel-Aviv University Medical School, Tel-Aviv University, Tel-Aviv, Israel
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Issue Date: Feb-2017
metadata.dc.date: 2017-01-13
Publication information: Epilepsia 2017; 58(2): e26-e30
Abstract: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (EEs) such as Dravet syndrome (DS). Although DS often occurs with de novo SCN1A pathogenic variants, milder GEFS+ spectrum phenotypes are associated with inherited pathogenic variants. We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair. Febrile seizures plus (FS+) occurred in six patients, five of whom had additional seizure types. The remaining case had childhood-onset temporal lobe epilepsy without known febrile seizures. Although early development was normal in all individuals, three later had learning difficulties, and the twin girls had language impairment and working memory deficits. All cases had SCN1A missense pathogenic variants that were not found in either parent. One pathogenic variant had been reported previously in a case of DS, and the remainder were novel. Our finding of de novo pathogenic variants in mild phenotypes within the GEFS+ spectrum shows that mild GEFS+ is not always inherited. SCN1A screening should be considered in patients with GEFS+ phenotypes because identification of pathogenic variants will influence antiepileptic therapy, and prognostic and genetic counseling.
URI: http://ahro.austin.org.au/austinjspui/handle/1/16548
DOI: 10.1111/epi.13649
ORCID: 0000-0002-1121-9513
0000-0003-4580-841X
0000-0002-2311-2174
PubMed URL: https://pubmed.ncbi.nlm.nih.gov/28084635
Type: Journal Article
Subjects: SCN1A
De novo pathogenic variant
Dravet syndrome
Febrile seizures
Genetic epilepsy with febrile seizures plus
Appears in Collections:Journal articles

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