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

Recognition and epileptology of protracted CLN3 disease.

Epilepsia - 1 Jul 2023

Cameron Jillian M, Damiano John A, Grinton Bronwyn, Carney Patrick W, McKelvie Penny, Silbert Peter, Lawn Nicholas, Scheffer Ingrid E, Oliver Karen L, Hildebrand Michael S, Berkovic Samuel F

Abstract excerpt

OBJECTIVE: This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder. METHODS: We analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease. Haplotype analysis was performed in three reportedly unrelated families. RESULTS: Visual impairment was the initial symptom, with onset at 5-9 years,...

Read the complete abstract on PubMed

Topics

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

Share to Australia
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Membrane Glycoproteins

Share to Molecular Chaperones

Share to Neuronal Ceroid-Lipofuscinoses

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 37039534
DOI: 10.1111/epi.17616
PMCID: PMC10952944

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recognition and epileptology of protracted CLN3 disease.PMID 37039534Read ↗

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.Semantic proximity Read ↗

A diagnostic confidence scheme for CLN3 disease.Semantic proximity Read ↗

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Semantic proximity Read ↗

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.Semantic proximity Read ↗

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Semantic proximity Read ↗

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 DiseaseSemantic proximity Read ↗

Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.Semantic proximity Read ↗

A Timeline of Symptom Onset and Disease Progression in CLN3 DiseaseSemantic proximity Read ↗

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.Semantic proximity Read ↗

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.Semantic proximity Read ↗

Autophagic vacuolar myopathy is a common feature of CLN 3 diseaseSemantic proximity Read ↗

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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