Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy

Journal of Neurosurgery. Pediatrics
Karen L SkjeiEric D Marsh

Abstract

Mutations in the sodium channel alpha 1 subunit gene (SCN1A) have been associated with a wide range of epilepsy phenotypes including Dravet syndrome. There currently exist few histopathological and surgical outcome reports in patients with this disease. In this case series, the authors describe the clinical features, surgical pathology, and outcomes in 6 patients with SCN1A mutations and refractory epilepsy who underwent focal cortical resection prior to uncovering the genetic basis of their epilepsy. Medical records of SCN1A mutation-positive children with treatment-resistant epilepsy who had undergone resective epilepsy surgery were reviewed retrospectively. Surgical pathology specimens were reviewed. All 6 patients identified carried diagnoses of intractable epilepsy with mixed seizure types. Age at surgery ranged from 18 months to 20 years. Seizures were refractory to surgery in every case. Surgical histopathology showed evidence of subtle cortical dysplasia in 4 of 6 patients, with more neurons in the molecular layer of the cortex and white matter. Cortical resection is unlikely to be beneficial in these children due to the genetic defect and the unexpected neuropathological finding of mild diffuse malformations of cortica...Continue Reading

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Citations

Jul 29, 2016·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Brian J DlouhyMatthew D Smyth
Nov 26, 2016·Journal of Neurosurgery. Pediatrics·Malgosia A KokoszkaSaadi Ghatan
Aug 18, 2018·Clinical EEG and Neuroscience·Anna M TiefesIngo Borggraefe
Jan 28, 2019·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·W WangZ I Wang
Dec 7, 2018·JAMA Neurology·John P AndrewsDennis D Spencer
Nov 26, 2018·Archives of Disease in Childhood. Education and Practice Edition·Pooja HarijanWilliam P Whitehouse
Aug 3, 2019·Brain : a Journal of Neurology·Stefan RamppMichael Buchfelder
Dec 16, 2017·Annals of Neurology·Nicolas RoehriChristian-George Bénar
Sep 25, 2019·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T J O'DonohoeE Callander
Jun 17, 2020·Developmental Medicine and Child Neurology·Aikaterini VezyroglouJ Helen Cross
Dec 26, 2019·PeerJ·Kyung Wook KangMyeong-Kyu Kim
Oct 6, 2020·Frontiers in Pharmacology·Luis Felipe Santos MenezesElisabeth Ferroni Schwartz
Apr 10, 2021·Expert Review of Neurotherapeutics·Renzo Guerrini, Carmen Barba
May 4, 2021·Neurogenetics·Ana Carla Mondek RampazzoPaulo Henrique Pires de Aguiar

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