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epilepsy re-classification, placement of adolescence-adult electroclinical syndrome #814

Open sbello opened 4 years ago

sbello commented 4 years ago

The term 'adolescence-adult electroclinical syndrome' (DOID:0050705) is currently a direct child of 'absence epilepsy' (DOID:0070309), however, many of the children of 'adolescence-adult electroclinical syndrome' involve forms of epilepsy that do not belong under 'absence epilepsy' see for example 'juvenile myoclonic epilepsy'. I would suggest moving 'adolescence-adult electroclinical syndrome' and 'childhood electroclinical syndrome' out from under 'absence epilepsy'. We may want to use age of onset or seizure type relationships in this branch to allow for inference of multiple parents based on the two axes of classification.

lschriml commented 4 years ago

There is a revised/updated classification of epilepsies. https://www.ilae.org/guidelines/definition-and-classification/definition-of-epilepsy-2014

https://www.ilae.org/files/ilaeGuideline/Definition2014.pdf

https://www.ilae.org/guidelines/definition-and-classification Operational Classification of Seizure Types by the ILAE (2017) Position paper of the ILAE Commission for Classification and Terminology

ILAE Classification of the Epilepsies (2017): Position paper of the ILAE Commission for Classification and Terminology https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017 Paper: https://onlinelibrary.wiley.com/doi/full/10.1111/epi.13709

epilepsy type, including focal epilepsy, generalized epilepsy, combined generalized, and focal epilepsy, and also an unknown epilepsy group. The third level is that of epilepsy syndrome, where a specific syndromic diagnosis can be made. The new classification incorporates etiology along each stage, emphasizing the need to consider etiology at each step of diagnosis, as it often carries significant treatment implications. Etiology is broken into six subgroups, selected because of their potential therapeutic consequences. New terminology is introduced such as developmental and epileptic encephalopathy. The term benign is replaced by the terms self‐limited and pharmacoresponsive, to be used where appropriate. It is hoped that this new framework will assist in improving epilepsy care and research in the 21st century.

--Need to review the new classification and revise the DO.

Cheers, Lynn

allenbaron commented 1 year ago

We might also want to include reclassification/grouping of the 'developmental and epileptic encephalopathy' (DOID:0112202) diseases as part of this adjustment, since they have a complex relationship with some of these diseases (e.g. 'Lennox-Gastaut syndrome') and there are so many of them.

allenbaron commented 1 year ago

Noting that some of the children of 'infancy electroclinical syndrome' (DOID:0050703) and 'neonatal period electroclinical syndrome' (DOID:0050702), which were characterized based on phenotypic similarities in the past, have been grouped by OMIM into DEE. Reference: https://www.omim.org/entry/308350#nomenclature

Includes at least:

allenbaron commented 1 year ago

Noting that 'Rett syndrome' (DOID:1206) has significant phenotypic overlap with DEE diseases as well and may need to be considered as part of this update.

Useful reference: Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review (2021), https://pubmed.ncbi.nlm.nih.gov/34440332/

allenbaron commented 1 year ago

Collecting additional publications as I add more DEE diseases from OMIM that cover phenotypic variability and may be helpful in updating the classification of these diseases:

lschriml commented 8 months ago

-- Needs a full re-review -- see DO-KB curation docs

ILAE Classification and Definition of Epilepsy Syndromes Position papers by the ILAE Nosology and Definitions Task Force, Epilepsia (2022)

ILAE Classification of Seizures and the Epilepsies: Modification for seizures in the neonate Position paper by the ILAE Task Force on Neonatal Seizures, Epilepsia (2021)