ArticleEpilepsia2021
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.
Article in Epilepsia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed.
- Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.Epilepsia open · 2026Review
- Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy.International journal of medical informatics · 2025Article
- Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy.Epilepsia · 2025Article
- Deciphering the Natural History ofNeurology · 2025Article
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
- Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.Artificial intelligence in medicine · 2023Article
- Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study.The Lancet. Digital health · 2023Article
- Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Human mutation · 2022Review
- Current practice in diagnostic genetic testing of the epilepsiesEpileptic disorders : international epilepsy journal with videotape · 2022Article
- Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.Epilepsia · 2022Review
- The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.Clinical genetics · 2022Article
- Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs.Neuropharmacology · 2021Review
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13 authors.
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Abstract
objectiveThe clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration of the fundamental clinical entities that comprise an epilepsy is essential in the study of causes, trajectories, and treatment responses. The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. We sought to redesign the HPO seizure subontology to improve its consistency with current epileptological concepts, supporting the use of large clinical data sets in high-throughput clinical and research genomics.
methodsWe created a new HPO seizure subontology based on the 2017 International League Against Epilepsy (ILAE) Operational Classification of Seizure Types, and integrated concepts of status epilepticus, febrile, reflex, and neonatal seizures at different levels of detail. We compared the HPO seizure subontology prior to, and following, our revision, according to the information that could be inferred about the seizures of 791 individuals from three independent cohorts: 2 previously published and 150 newly recruited individuals. Each cohort's data were provided in a different format and harmonized using the two versions of the HPO.
resultsThe new seizure subontology increased the number of descriptive concepts for seizures 5-fold. The number of seizure descriptors that could be annotated to the cohort increased by 40% and the total amount of information about individuals' seizures increased by 38%. The most important qualitative difference was the relationship of focal to bilateral tonic-clonic seizure to generalized-onset and focal-onset seizures. SIGNIFICANCE: We have generated a detailed contemporary conceptual map for harmonization of clinical seizure data, implemented in the official 2020-12-07 HPO release and freely available at hpo.jax.org. This will help to overcome the phenotypic bottleneck in genomics, facilitate reuse of valuable data, and ultimately improve diagnostics and precision treatment of the epilepsies.
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