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

Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.

Neurology - 14 Apr 2026

De Dominicis Angela, Mercier Mattia, Carfi Pavia Giusy, Piscitello Ludovica Maria, Cappelletti Simona, Filosomi Cristina, Correale Cinzia, Calabrese Costanza, De Palma Luca, Novelli Antonio, Stregapede Fabrizia, Trivisano Marina, Specchio Nicola

Abstract excerpt

BACKGROUND AND OBJECTIVES: Genetic epilepsies include a broad spectrum of disorders caused by pathogenic variants in more than 1,000 genes. Their clinical expression is highly variable, making early phenotype-genotype interpretation challenging. Early seizure semiology and EEG features may offer clinically useful information for diagnostic orientation and management. The aim of this study was to characterize...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Cluster Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Clustering Algorithms

Share to Cohort Studies

Share to Electroencephalography

Share to Epilepsy

Share to Genetic Association Studies

Share to Infant

Source

Identifiers

PMID: 41818656
DOI: 10.1212/WNL.0000000000214761

Genes

CHD2
KCNQ2
MECP2
PRRT2
SCN1A
SCN2A
STXBP1
SYNGAP1

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

Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.PMID 41818656Read ↗

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

An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort Study.Semantic proximity Read ↗

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudySemantic proximity Read ↗

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

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

Neonatal/infantile‐onset genetic epilepsies: The utility of genetic testing for molecular etiology‐specific diagnosis concerning therapeutic implicationsSemantic proximity Read ↗

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.Semantic proximity Read ↗

Early life seizures and epileptic spasms in<i>STXBP1</i>-related disordersSemantic proximity Read ↗

Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesSemantic proximity Read ↗

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

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

Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic EncephalopathySemantic proximity Read ↗

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