[Simple febrile seizure, complex seizure, generalized epilepsy with febrile seizure plus, FIRES and new syndromes].
The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).
Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus.
Genetic Epilepsy Syndromes.
Myers KA.
Continuum (Minneap Minn). 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077.
Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).
Camfield P, Camfield C.
Epileptic Disord. 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737.
Febrile Seizures in Children: A Review.
Tiwari A, Meshram RJ, Kumar Singh R.
Cureus. 2022 Nov 14;14(11):e31509. doi: 10.7759/cureus.31509. eCollection 2022 Nov.
SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE, Nabbout R.
Epilepsia. 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386.
Genotype-phenotype associations in SCN1A-related epilepsies.
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH.
Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19.
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D.
Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24.
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N.
Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245.
SCN1A Seizure Disorders.
Miller IO, Sotero de Menezes MA.
2007 Nov 29 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
[Simple febrile seizure, complex seizure, generalized epilepsy with febrile seizure plus, FIRES and new syndromes].
Moreno de Flagge N.
Medicina (B Aires). 2013;73 Suppl 1:63-70.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S.
Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210.
