TY - JOUR
T1 - ILAE classification and definition of epilepsy syndromes with onset in neonates and infants
T2 - Position statement by the ILAE Task Force on Nosology and Definitions
AU - Zuberi, Sameer M.
AU - Wirrell, Elaine
AU - Yozawitz, Elissa
AU - Wilmshurst, Jo M.
AU - Specchio, Nicola
AU - Riney, Kate
AU - Pressler, Ronit
AU - Auvin, Stephane
AU - Samia, Pauline
AU - Hirsch, Edouard
AU - Galicchio, Santiago
AU - Triki, Chahnez
AU - Snead, O. Carter
AU - Wiebe, Samuel
AU - Cross, J. Helen
AU - Tinuper, Paolo
AU - Scheffer, Ingrid E.
AU - Perucca, Emilio
AU - Moshé, Solomon L.
AU - Nabbout, Rima
N1 - Publisher Copyright:
© 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
PY - 2022/6
Y1 - 2022/6
N2 - The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.
AB - The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.
KW - Dravet syndrome
KW - developmental and epileptic encephalopathy
KW - epilepsy of infancy with migrating focal seizures
KW - infantile spasms
KW - self-limited epilepsies
UR - http://www.scopus.com/inward/record.url?scp=85129313926&partnerID=8YFLogxK
U2 - 10.1111/epi.17239
DO - 10.1111/epi.17239
M3 - Article
C2 - 35503712
AN - SCOPUS:85129313926
SN - 0013-9580
VL - 63
SP - 1349
EP - 1397
JO - Epilepsia
JF - Epilepsia
IS - 6
ER -