Discover Community Create You

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

Article

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

26 Apr 2018

Abstract excerpt

Abstract We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Genetics and Neurodevelopmental Disorders
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29760947
DOI: 10.1038/s41525-018-0052-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incorporating epilepsy genetics into clinical practice: a 360°evaluationPMID 29760947Read ↗

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

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersSemantic proximity Read ↗

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.Semantic proximity Read ↗

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.Semantic proximity Read ↗

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical PracticeSemantic proximity Read ↗

Genetic testing in paediatric neurological disordersSemantic proximity Read ↗

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.Semantic proximity Read ↗

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.Semantic proximity Read ↗

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsySemantic proximity Read ↗

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.Semantic proximity Read ↗

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practiceSemantic proximity Read ↗

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

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