Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/23562
Title: Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
Authors: Vezyroglou, Aikaterini;Varadkar, Sophia;Bast, Thomas;Hirsch, Edouard;Strobl, Karl;Harvey, A Simon;Scheffer, Ingrid E;Sisodiya, Sanjay M;Cross, J Helen
Affiliation: Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia
Department of Neurology, Great Ormond Street Hospital for Children, London, UK..
Department of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK
Kork Epilepsy Center, Kehl-Kork, Germany
Medical Faculty of the University of Freiburg, Freiburg, Germany
Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia
Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France..
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK..
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 15-Jun-2020
EDate: 2020
Citation: Developmental medicine and child neurology 2020; online first: 15 June
Abstract: Variants in the gene SCN1A are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to Dravet syndrome. Focal onset seizures and structural lesions can be present in these patients and the question arises whether epilepsy surgery should be considered. We report eight patients (mean age 13y 11mo [SD 8y 1mo], range 3-26y; four females, four males) with SCN1A variants, who underwent epilepsy surgery. Outcomes were variable and seemed to be directly related to the patient's anatomo-electroclinical epilepsy phenotype. Patients with Dravet syndrome had unfavourable outcomes, whilst patients with focal epilepsy, proven to arise from a single structural lesion, had good results. We conclude that the value of epilepsy surgery in patients with an SCN1A variant rests on two issues: understanding whether the variant is pathogenic and the patient's anatomo-electroclinical phenotype. Careful evaluation of epilepsy phenotype integrated with understanding the significance of genetic variants is essential in determining a patient's suitability for epilepsy surgery. Patients with focal onset epilepsy may benefit from epilepsy surgery, whereas those with Dravet syndrome do not.
URI: http://ahro.austin.org.au/austinjspui/handle/1/23562
DOI: 10.1111/dmcn.14588
ORCID: 0000-0001-6495-0863
0000-0001-7154-6738
0000-0002-2311-2174
PubMed URL: 32538476
Type: Journal Article
Appears in Collections:Journal articles

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