Dravet syndrome [DS:H01818] Epilepsy with myoclonic-astatic seizures [DS:H01823] Early myoclonic encephalopathy [DS:H01819] Early infantile epileptic encephalopathy [DS:H00606] Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) Epilepsy, X-linked, with variable learning disabilities and behavior disorders (EPILX)
Description
Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures, Early myoclonic encephalopathy, Early infantile epileptic encephalopathy, and other symptomatic generalized epilepsies.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H00577 Symptomatic generalized epilepsies
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy.
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE
Title
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmuller J, Krause R, May P, Becker F, Balling R, Biskup S, Haas SA, Nurnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E
Title
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
