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

Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy.

Epilepsia open - 1 Aug 2026

Morris Haley, Mathew Elizabeth, Bahl Shalini, Villa-Lopez Marta, Mercimek-Andrews Saadet

Abstract excerpt

OBJECTIVES: The objectives of this study were to develop a real-world-data (RWD) database for patients with epilepsy to provide further real-world-evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant pathogenicity. METHODS: We stratified patients into Group 1 (with genetic...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Epilepsy

Share to Exome Sequencing

Share to Infant

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 42220229
DOI: 10.1002/epi4.70269
PMCID: PMC13394182

Genes

ARHGAP35
BACH2
BAZ2B
DOP1B
EPHA5
FRYL
HMGXB4
LARP7
MTDH
NHSL2
NLGN2
NRXN2
P2RX4
PRICKLE2
PRRC2A
RALGAPB
RNF157
ZNF532
ZNF536

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy.PMID 42220229Read ↗

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenicSemantic proximity Read ↗

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Semantic proximity Read ↗

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read ↗

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Semantic proximity Read ↗

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.Semantic proximity Read ↗

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

Delineation of functionally essential protein regions for 242 neurodevelopmental genes.Semantic proximity Read ↗

Dissecting the functional landscape of rare diseases through genomic variation in a heterogeneous cohort of 11,000 patientsSemantic proximity Read ↗

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individualsSemantic proximity Read ↗

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.Semantic proximity Read ↗

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

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsySemantic proximity Read ↗

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