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

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Epilepsia - 1 Jun 2023

Mignon-Ravix Cécile, Riccardi Florence, Daquin Géraldine, Cacciagli Pierre, Lamoureux-Toth Sylvie, Villard Laurent, Villeneuve Nathalie, Molinari Florence

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are genetically heterogeneous, and the proteins involved play roles in multiple pathways such as synaptic transmission, metabolism, neuronal development or maturation, transcriptional regulation, and intracellular trafficking. We...

Read the complete abstract on PubMed

Topics

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

Share to Electroencephalography
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Seizures

Source

Identifiers

PMID: 37014259
DOI: 10.1111/epi.17603

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

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.PMID 37014259Read ↗

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.Semantic proximity Read ↗

PIGN encephalopathy: Characterizing the epileptology.Semantic proximity Read ↗

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.Semantic proximity Read ↗

Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.Semantic proximity Read ↗

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.Semantic proximity Read ↗

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.Semantic proximity Read ↗

Variants in<i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeSemantic proximity Read ↗

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.Semantic proximity Read ↗

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.Semantic proximity Read ↗

Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.Semantic proximity Read ↗

The phenotype of SCN8A developmental and epileptic encephalopathy.Semantic proximity Read ↗

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