1. Overview

    Phenotype Type
    Disease or syndrome
    Sex
    Both
    Valid Event Date Range
    No data
    Coding System
    ICD10 codesRead codes v2
    Data Sources
    CPRD GOLD
    CPRD Aurum
    Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care
    Collections
    No data
    Tags
    No data
    Ontology
    epilepsy syndrome

  2. Definition

    This phenotype provides code lists for the phenotyping of the Epilepsy Syndromes as defined by the International League Against Epilepsy (ILAE) guidelines referenced below.

    We have mapped all syndrome codes where possible to the most recent guidance definitions, including:

    1) Developmental and epileptic encephalopathies, including the progressive myoclonic epilepsies.

    3) Idiopathic generalised epilepsy syndromes (IGEs)

    4) Genetic Generalised Epilepsies (GGE) Also reffered to as Epilepsy syndromes with generalised features.

    5) Self-limited focal epilepsies.

    6) Aetiology specific epilepsy.

    7) Unspecified Idiopathic Generalised Epilepsy Syndrome or epilepsy syndrome with generalised features

    8) Unspecified focal idiopathic epilepsy or epilepsy syndrome.

    Note that all syndromes in the ILAE references were searched for in code systems,. Syndrome identification is limited by a lack of specific codes for all potential syndromes.

    Some Epilepsy syndromes are dual classified here and will appear on more than one list. We do have more complex mapping files that take into account the fact that there may be dual classification and included more detailed syndrome phenotyping. We are more than happy to share this work with researchers who would find this useful.

    It is worth noting here that not all clinical "syndromes" with epilepsy are included here - some "syndromes" which have epilepsy as a clinical feature do not meet the specific ILAE clinical definition of an epilepsy syndrome. Codes for genetic aetiologies for epilepsy are listed separately in our published algorithms for Epilepsy Aetiologies.

    References:

    Epilepsy syndromes

    Using the International league against epilepsy (ILAE) 2021-2022 guidelines, we have created a list of all epilepy syndromes and corresponding code lists. These syndrome code lists are based on information from the following papers:

    Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1333–1348. https://doi.org/10.1111/epi.17237

    Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1349–1397. https://doi.org/10.1111/epi.17239

    Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1398–1442. https://doi.org/10.1111/epi.17241

    Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1443–1474. https://doi.org/10.1111/epi.17240

    Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022; 63: 1475–1499. https://doi.org/10.1111/epi.17236

    This work builds on that previously done by:

    Fonferko-Shadrach B, Lacey AS, White CP, Powell HWR, Sawhney IMS, Lyons RA, Smith PEM, Kerr MP, Rees MI, Pickrell WO. Validating epilepsy diagnoses in routinely collected data. Seizure. 2017 Nov;52:195-198. doi: 10.1016/j.seizure.2017.10.008. Epub 2017 Oct 13. PMID: 29059611; PMCID: PMC5703030.

    Fonferko-Shadrach B, Lacey AS, Roberts A, et alUsing natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) systemBMJ Open 2019;9:e023232. doi: 10.1136/bmjopen-2018-023232

  3. Implementation

    Implementation

    This phenotype provides code lists for the phenotyping of the Epilepsy Syndromes as defined by the International League Against Epilepsy (ILAE) guidelines referenced below.

    Note that this code list is not intended to be used alone to ascertain epilepsy cases in coded data - we would reccomend that our incident epilepsy alogorithm is used for this purpose. Once cases are identified, these lists should be used to phenotype the case.

    These code lists have been validated against clinical data - publication pending.

  4. Clinical Codelist

  5. Publication

    Related publications

    No known publications

    Citation Example

    Kathryn J. Bush, Beata Fonferko-Shadrach, Huw A. Strafford, Arron S. Lacey, Rob Powell, Inder Sawhney, Rajish Sanjit Kumar-Shil, Alexander Grundmann, Gemma Maxwell, Tim Wilkinson, Andrew Kingston, Rhys H. Thomas, Sheena E. Ramsay, William O Pickrell. PH1934 / 4535 - Epilepsy Syndromes. Phenotype Library [Online]. 01 December 2025. Available from: http://phenotypes.healthdatagateway.org/phenotypes/PH1934/version/4535/detail/. [Accessed 19 August 2026]

  6. API

    To Export Phenotype Details:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH1934/version/4535/detail/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get details of Phenotype

    phenotype_details = client$phenotypes$get_detail(
     'PH1934',
     version_id=4535
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get details of Phenotype

    phenotype_detail = client.phenotypes.get_detail(
     'PH1934',
     version_id=4535
    )

    To Export Phenotype Code List:

    FormatAPI
    JSON site_root/api/v1/phenotypes/PH1934/version/4535/export/codes/?format=json
    R Package

    # Download here

    library(ConceptLibraryClient)


    # Connect to API

    client = ConceptLibraryClient::Connection$new(public=TRUE)


    # Get codelist of Phenotype

    phenotype_codelist = client$phenotypes$get_codelist(
     'PH1934',
     version_id=4535
    )

    Py Package

    # Download here

    from pyconceptlibraryclient import Client


    # Connect to API

    client = Client(public=True)


    # Get codelist of Phenotype

    phenotype_codelist = client.phenotypes.get_codelist(
     'PH1934',
     version_id=4535
    )

  7. Version History

    Version IDNameOwnerPublish date
    Epilepsy Syndromes kathryn.bush2025-12-01 12:43
    4534 Epilepsy Syndromes kathryn.bush2025-11-27 14:41