Evidence map›Paper›PMID 31625138›Full record

ArticleEpilepsia2019

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.

Epi4K Consortium

Abstract read
In one paragraph

Article in Epilepsia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author.

Epi4K Consortium

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
Psychosocial Impact of Genetics in EpilepsyR01NS104076 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2018 to 2022
$3.2M
Remapping neurology through translation and innovationT32NS091008 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI AGUIRRE, GEOFFREY KARL, JENSEN, FRANCES E · 2015 to 2024
$3.0M
Psychosocial Impact of Genetics in EpilepsyR01NS078419 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2012 to 2015
$2.3M
Statistical Tests for Mapping Genetic Determinants of Complex TraitsR01GM117946 · NIGMS · EMORY UNIVERSITY · PI EPSTEIN, MICHAEL PHILIP, GHOSH, DEBASHIS · 2016 to 2019
$1.2M
5 of 7 Epi4K: Multiplex Families & Pairs ProjectU01NS077367 · NINDS · UNIVERSITY OF MELBOURNE · PI BERKOVIC, SAMUEL FRANK, COSSETTE, PATRICK · 2011 to 2013
$1.0M
Department of Health 09/144/09Medical Research Council G0800637NHGRI NIH HHS RM1 HG007257NIGMS NIH HHS R01 GM117946NIH HHS P50 HG007257NIH HHS R01 GM117946NIH HHS R01 NS078419NIH HHS R01 NS104076NIH HHS RM1 HG007257NINDS NIH HHS R01 NS078419NINDS NIH HHS R01 NS104076NINDS NIH HHS T32 NS091008NINDS NIH HHS U01 NS077367NINDS NIH HHS U01NS077367
6 · The paper itself

Abstract

objectiveClassification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks.

methodsWe used latent class analysis, a statistical method that assigns subjects into groups called latent classes based on phenotypic elements, to classify individuals with common familial epilepsies from the Epi4K Multiplex Families study. Phenotypic elements included seizure types, seizure symptoms, and other elements of the medical history. We compared class assignments to traditional electroclinical classifications and assessed familial aggregation of latent classes.

resultsA total of 1120 subjects with epilepsy were assigned to five latent classes. Classes 1 and 2 contained subjects with generalized epilepsy, largely reflecting the distinction between absence epilepsies and younger onset (class 1) versus myoclonic epilepsies and older onset (class 2). Classes 3 and 4 contained subjects with focal epilepsies, and in contrast to classes 1 and 2, these did not adhere as closely to clinically defined focal epilepsy subtypes. Class 5 contained nearly all subjects with febrile seizures plus or unknown epilepsy type, as well as a few subjects with generalized epilepsy and a few with focal epilepsy. Family concordance of latent classes was similar to or greater than concordance of clinically defined epilepsy types. SIGNIFICANCE: Quantitative classification of epilepsy has the potential to augment traditional electroclinical classification by (1) combining some syndromes into a single class, (2) splitting some syndromes into different classes, (3) helping to classify subjects who could not be classified clinically, and (4) defining the boundaries of clinically defined classifications. This approach can guide future research, including molecular genetic studies, by identifying homogeneous sets of individuals that may share underlying disease mechanisms.

Indexed as

Latent Class AnalysisPhenotypeElectroencephalographyEpileptic SyndromesFemaleHumansMalePedigreeepilepsygeneticslatent class analysisphenotype

Identifiers

PMID31625138
PMCPMC7145322

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.