Genetic Diagnosis in Epilepsy: Implications for Clinical Management.

Krista S Schatz, Dawn B Lammert, Christa W Habela

Abstract readReview

In one paragraph

Review in Current neurology and neuroscience reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

3 authors.

Krista S SchatzDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe Street Blalock 1008, Baltimore, MD, 21287, USA. ksonder1@jhmi.edu.ORCID https://orcid.org/0009-0005-2108-7365

Dawn B LammertDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-8906-6123

Christa W HabelaDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-5315-2310

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of reviewTo describe the clinical implications of genetic diagnoses in epilepsy and the recent advancements in this field. RECENT

findingsA genetic diagnosis in epilepsy has been shown to impact clinical management in almost half of individuals, often within three months of diagnosis, with anti-seizure medication recommendations being the most common change. More recently, data from somatic genetic testing in brain tissue has shown the potential to impact prognostic information and medication recommendations. Genetic testing is becoming routine clinical care in epilepsy and is recommended for all individuals with unexplained epilepsy, regardless of age. A monogenic epilepsy diagnosis impacts clinical seizure management and provides additional non-seizure management benefits. The clinical utility of genetic testing will only continue to increase as gene therapies and other precision medicine treatments are approved.

Indexed as

Disease ManagementEpilepsyGenetic TestingAnticonvulsantsHumansPrecision MedicineAnticonvulsantsEpilepsyEpilepsy management, gene therapy, precision medicineGenetic testingMonogenic epilepsy

Identifiers

PMID42720877

DOI10.1007/s11910-026-01514-1

PMCPMC13562175

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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.