ClassificationSeizures-2017-Scheffer.pdf

Classification of the Epilepsies Purpose: for clinical diagnosis Transparent language: use words that mean what they say  Seizure types Focal Generalized Unknown...

Classification of the Epilepsies Purpose: for clinical diagnosis Transparent language: use words that mean what they say  Seizure types Focal Generalized Unknown Etiology onset onset onset Structural Co-morbidities Genetic Epilepsy types Infectious Combined Focal Generalized Generalized Unknown Metabolic & Focal Immune Unknown Epilepsy Syndromes  1. Seizure types Certain that events are epileptic seizures – not referring to distinguishing epileptic versus non-epileptic In some settings → classification according to seizure type may be maximum level of diagnosis possible In other cases → simply too little information to be able to make a higher level diagnosis eg. when a patient has only had a single event  Seizure types Focal Generalized Unknown onset onset onset  Generalized seizures Originate at some point within and rapidly engage bilaterally distributed networks Can include cortical and subcortical structures but not necessarily the entire cortex Focal seizures Originate within networks limited to one hemisphere May be discretely localized or more widely distributed.… Notes Atonic seizures and epileptic spasms would not have level of awareness specified Pedalling grouped in hyperkinetic rather than automatisms (arbitrary) Cognitive seizures impaired language other cognitive domains positive features eg déjà vu, hallucinations, perceptual distortions Emotional seizures: anxiety, fear, joy, etc Note When a seizure type begins with ”focal, generalized or absence” then the word “onset” can be presumed  Terms no longer in use Complex partial Simple partial Partial Psychic Dyscognitive Secondarily generalized tonic-clonic Note Clarify features of seizures but do not define unique seizure types Free text descriptors encouraged  Seizure types Focal Generalized Unknown Etiology onset onset onset Structural Genetic Tuberous Sclerosis Infectious Metabolic Immune GLUT1 deficiency Unknown  Epilepsy types Combined Focal Generalized Generalized Unknown & Focal Where unable to make an Epilepsy Syndrome diagnosis or a diagnosis of Etiology Many examples – Temporal lobe epilepsy – Generalized tonic-clonic seizures in a 5 year old with generalized spike-wave – Both focal impaired awareness seizures and absence seizures in a patient – Cannot tell if tonic-clonic seizure is focal or generalized  Generalized and Focal Epilepsies Combined focal and generalized epilepsies Examples – Dravet syndrome What do with – Multifocal epilepsies? → focal – Hemispheric epilepsies? → focal  Seizure types Focal Generalized Unknown Etiology onset onset onset Structural Genetic Epilepsy types Infectious Combined Focal Generalized Generalized Unknown Metabolic & Focal Immune Unknown Epilepsy Syndromes  Old term ‘Idiopathic Generalized Epilepsies’ Idiopathic Generalized Epilepsies Childhood Juvenile Absence Absence Epilepsy Epilepsy Juvenile Generalized Myoclonic Tonic-Clonic Epilepsy Seizures Alone  Genetic versus idiopathic ‘Idiopathic’ = presumed hereditary predisposition Genetic ≠ inherited – Importance of de novo mutations in both mild and severe epilepsies Critical problem of stigma in some parts of the world  Genetic ≠ Gene testing – Usually the mutation is not known – Access to molecular genetic testing not necessary – Diagnosed on clinical research eg. twin, family studies JME pair; Lennox 1941 CAE pair; Lennox 1950  Seizure types Focal Generalized Unknown Etiology onset onset onset Structural Co-morbidities Genetic Genetic Epilepsy types Infectious Combined Focal Generalized Generalized Unknown Generalized Metabolic & Focal Immune Unknown Epilepsy Syndromes  Epilepsy syndromes There are no approved ILAE epilepsy syndromes https://www.epilepsydiagnosis.org  Benign Many epilepsies not benign – CAE – psychosocial impact – BECTS – learning concerns Replaced by terms: – Self-limited – Pharmacoresponsive No longer use – Malignant – Catastrophic Developmental and/or Epileptic encephalopathies Epileptic activity itself contributes to severe cognitive and behavioral impairment above and beyond that expected from the underlying pathology and that these can worsen over time Berg et al 2010  Developmental and/or Epileptic Encephalopathy For many encephalopathies, there is a developmental component independent of the epileptic encephalopathy Developmental delay may precede seizure onset Co-morbidities eg. cerebral palsy, autism spectrum disorder, intellectual disability Outcome poor even though seizures stop eg. KCNQ2, STXBP1 encephalopathies  Developmental and/or Epileptic Encephalopathy Developmental encephalopathy May begin in utero Post birth Epileptic encephalopathy Can occur at any age May have remediable component – right vs wrong AED Move towards GENE encephalopathy eg. CDKL5 encephalopathy, SCN2A encephalopathy  Old terms ‘Symptomatic Generalized Epilepsies’ Used for two different Symptomatic Generalized groups of disorders Epilepsies Developmental and/or (Static) Epileptic Encephalopathies Encephalopathies  ILAE Classification of the Epilepsies Simplified the framework Etiology – consider at all stages Developmental and/or Epileptic Encephalopathies Self-limited, pharmacoresponsive Genetic Generalized Epilepsies – Idiopathic Generalized Epilepsies = CAE, JAE, JME, GTCA Symptomatic Generalized Epiliepsies used for both → Developmental and Epileptic Encephalopathies → (static) Encephalopathy with Epilepsy  Impact on Clinical Care and Practice New classification framework will Change the approach to diagnosis in the clinic Be applied to patients and guide management Updates terminology to reflect current thinking Scientific advances  ILAE Classification Task Force 2013-7 Torbjörn Tomson, Emilio Perucca, Ingrid Scheffer, Jackie French, Yue-Hua Zhang Satish Jain, Gary Mathern, Sam Wiebe, Edouard Hirsch, Sameer Zuberi, Nico Moshe