Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

doi:10.1002/epi.70160

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.

Epilepsia - 1 Jun 2026

Ellis Colin A, Copeland Juliette, Velez Isabella, Oliver Karen L, Shalaby Hannah, Baldwin Aaron, Armstrong Caren, Back Amanda, Berlin Brianna, Cohen Stacey, Cuddapah Vishnu Anand, deCampo Danielle, Dubbs Holly, Ginn Natalie, Harrison Alicia G, Lewin Naomi, Lusk Laina, Marsh Eric D, Massey Shavonne L, McDonnell Pamela Pojomovsky, McKee Jillian L, Ortiz-Gonzalez Xilma, Prentice Anna J, Sullivan Katie Rose, Ruggiero Sarah M, Fitzgerald Mark P, Goldberg Ethan M, Helbig Ingo

Abstract excerpt

OBJECTIVE: Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood. METHODS: This was a retrospective cohort study of genetic testing performed at pediatric and adult epilepsy genetics clinics. Eligible patients (probands) had...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Epilepsy

Share to Genetic Testing

Share to Infant

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 41795712
DOI: 10.1002/epi.70160
PMCID: PMC13285230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Nov 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.PMID 41795712Read ↗

Genetic testing in the epilepsies--report of the ILAE Genetics Commission.Semantic proximity Read ↗

Current practice in diagnostic genetic testing of the epilepsiesSemantic proximity Read ↗

Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.Semantic proximity Read ↗

Genetic Testing in Adult Patients With Epilepsy: Genetic Risk Index for Seizure Etiology for Identifying Optimal Candidates.Semantic proximity Read ↗

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic CounselorsSemantic proximity Read ↗

Multigene Panel Testing in a Large Cohort of Adults With EpilepsySemantic proximity Read ↗

Early-Life Epilepsies and the Emerging Role of Genetic Testing.Semantic proximity Read ↗

Genetic characteristics of non-familial epilepsySemantic proximity Read ↗

Obtaining genetic testing in pediatric epilepsySemantic proximity Read ↗

Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesSemantic proximity Read ↗

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic DiagnosisSemantic proximity Read ↗

The current landscape of epilepsy genetics: where are we, and where are we going?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.