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Not medical advice. This taxonomy is an independent research awareness project. It does not represent or speak for any advocacy group, and grouping a gene under a mechanism class is a research convenience, not a clinical statement. Information is compiled from public sources, ages quickly, and may be incomplete or out of date; any errors are unintentional.
Rare epilepsy network

Opathy Taxonomy

A mechanism taxonomy for the monogenic epilepsies. Each gene is placed in one opathy class and one subclass by the molecular machinery it belongs to, and every placement is checked against the gene list published by Genes4Epilepsy. Genes that the taxonomy holds but the list does not are kept and marked as such. Select any gene to read its molecular function, the references behind its class, and links to its records in the public databases.

What the taxonomy holds

Checked against Genes4Epilepsy v2026-03 on 21 August 2026, using the copy of that release embedded in the Live Monitor. To reproduce the check, run python3 tools/build_opathy.py and compare opathy_taxonomy.csv against the GENES array in index.html.

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Classes and subclasses

Thirteen classes, divided into subclasses by the complex, family, or pathway the protein belongs to. Each class shows its definition, why the grouping is used, and the references behind it. A dashed red chip is a gene the taxonomy holds that Genes4Epilepsy does not list. A question mark is an entry in the curator's review queue. A green edge on the left means the gene is named on a therapeutic target.

Full table of every entry
GeneClassSubclassMolecular functionGenes4EpilepsyHGNCInheritancePhenotypesAlso known asReferencesTherapeutics
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Open questions

Three sets of decisions are open: genes the taxonomy holds that Genes4Epilepsy does not list, entries in the curator's review queue, and the placement and rule proposals. The classes above show the placements as they stand.

Genes the taxonomy holds that Genes4Epilepsy does not list
GeneLocationWhat is observable, and the open question
The curator's review queue
GenePrimary classSecond class consideredCurator note
Placement and rule questions
GeneCurrent locationQuestion
None of the genes absent from the release has a curated gene page in PAG Connections or a Knowledge Map.
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References

The reviews and resources behind the class definitions, each with the classes it supports. Reference identifiers appear on every class block and on every entry in the full table. Links are as recorded in the reference sheet, and were not re-checked when this page was built; some point at publisher pages that may sit behind a paywall.

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    Method

    How a gene is placed

    Each gene sits in the class named for the molecular machinery it belongs to, and within that class in the subclass for its complex, family, or pathway. Where a gene qualifies under two classes, the second class is recorded beside the first rather than resolved silently, and the entry goes into the review queue.

    How membership is checked

    Every entry is matched by symbol against the Genes4Epilepsy release that the Live Monitor already embeds, and the HGNC ID, inheritance, and phenotype groups shown here are taken from that release rather than restated from another source. All 172 present entries agree with it on all three fields. Genes absent from the release are kept and marked, because the list applies a gene-to-epilepsy evidence bar and a taxonomy of mechanisms can reasonably be broader than that.

    What the per-gene links are, and are not

    The links on each entry are records and live queries, not a reading list chosen for that gene. The PubMed link runs the gene symbol against the same epilepsy scope the Therapeutics map uses, so it returns what is indexed on the day it is opened. ClinVar, gnomAD, OMIM, Orphanet, GeneReviews, and HGNC are record lookups built from identifiers the release already carries. Genes absent from the release have no Ensembl or OMIM identifier here, so those entries show the subset a symbol alone supports.

    How the snapshot ages

    The membership status is a snapshot of one release. Genes4Epilepsy is updated periodically, so a gene marked absent here may be listed in a later release; THAP12 is the clearest example, since its biallelic report is dated February 2026 and postdates this release's curation window. Re-running the build after a new release regenerates the statuses.

    Where the content lives

    The class definitions, the reference list, the gene assignments, and the review queue are the curator's sheets under taxonomy/. The assembled taxonomy is opathy_taxonomy.csv, and this page reads the generated opathy-data.js. Editing a sheet and re-running the build is what changes the page.

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    Part of EpilepsyLive, an independent research awareness project by Danielle Boyce. Corrections are welcome by email.