2020
DOI: 10.1111/dmcn.14588
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Focal epilepsy in SCN1A‐mutation carrying patients: is there a role for epilepsy surgery?

Abstract: ABBREVIATIONS GEFS+ Genetic epilepsy with febrile seizures plus GTCS Generalized tonic-clonic seizures 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… Show more

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Cited by 25 publications
(25 citation statements)
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“…However, SCN1A gene variants are also a recognized cause for epilepsies and neurodevelopmental disorders outside the Dravet syndrome spectrum—ranging from milder phenotypes such as generalized epilepsy with febrile seizures plus ( Escayg et al, 2000 ), to other epilepsy syndromes such as myoclonic astatic epilepsy, epilepsy of infancy with migrating focal seizures, or even to recently described more severe early onset epileptic encephalopathies with neurodegeneration and dyskinesia ( Sadleir et al, 2017 ; Beck et al, 2019 ; Gorman et al, 2021 ). With increased genetic testing, SCN1A variants have been described in patients with focal epilepsies ( Vezyroglou et al, 2020 )—both in patients that were candidates for epilepsy surgery, and those with self-limiting focal epilepsies of childhood. These patients are part of a minority of cases of focal epilepsy for which single gene causes have been identified.…”
Section: Introductionmentioning
confidence: 99%
“…However, SCN1A gene variants are also a recognized cause for epilepsies and neurodevelopmental disorders outside the Dravet syndrome spectrum—ranging from milder phenotypes such as generalized epilepsy with febrile seizures plus ( Escayg et al, 2000 ), to other epilepsy syndromes such as myoclonic astatic epilepsy, epilepsy of infancy with migrating focal seizures, or even to recently described more severe early onset epileptic encephalopathies with neurodegeneration and dyskinesia ( Sadleir et al, 2017 ; Beck et al, 2019 ; Gorman et al, 2021 ). With increased genetic testing, SCN1A variants have been described in patients with focal epilepsies ( Vezyroglou et al, 2020 )—both in patients that were candidates for epilepsy surgery, and those with self-limiting focal epilepsies of childhood. These patients are part of a minority of cases of focal epilepsy for which single gene causes have been identified.…”
Section: Introductionmentioning
confidence: 99%
“…24 In SCN1A epilepsy, sodium channel blockers should be avoided, epilepsy surgery should probably not be pursued unless the phenotype is mild, and a potential use of cannabidiol, stiripentol, fenfluramine, and clemizole in the treatment of this condition is under investigation. [25][26][27][28] In MELAS syndrome, multidisciplinary care is crucial, and valproic acid as well as many other ASMs should be avoided due to concerns of mitochondrial toxicity. 29 Whereas in McKnight et al's study 55.5% of genetic diagnoses were clinically actionable, in our study, 71% of diagnoses were clinically actionable.…”
Section: Discussionmentioning
confidence: 99%
“…These measures were unavailable at the time the proband was seen. Functional testing of the variant in vitro showed loss‐of‐function (B; Ref 69…”
Section: Precision Medicine and The Pivot Of Geneticsmentioning
confidence: 99%
“…Functional testing of the variant in vitro showed loss‐of‐function (B; Ref. 69 ). At this point, the full pedigree (C, blue rectangle) became available through the proband's maternal grandmother.…”
Section: Precision Medicine and The Pivot Of Geneticsmentioning
confidence: 99%