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

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.

Epilepsia - 1 Oct 2005

Baykan Betul, Striano Pasquale, Gianotti Stefania, Bebek Nerses, Gennaro Elena, Gurses Candan, Zara Federico

Abstract excerpt

We report a family with four brothers affected by Lafora disease (LD). Mean age at onset was 19.5 years (range, 17-21). In all cases, the initial obvious symptoms were diffuse myoclonus and occasional generalized tonic-clonic seizures (GTCSs), followed by cognitive difficulties. Severity of myoclonus, seizure diaries, and neurologic and neuropsychological status were finally evaluated in March 2005. The duration...

Read the complete abstract on PubMed

Topics

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

Share to Medical Records
Share to Cognition Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Lafora Disease

Share to Neuropsychological Tests

Share to Siblings

Share to Social Adjustment

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 16190947
DOI: 10.1111/j.1528-1167.2005.00272.x

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

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.PMID 16190947Read ↗

Clinical and genetic findings in 26 Italian patients with Lafora disease.Semantic proximity Read ↗

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.Semantic proximity Read ↗

The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families.Semantic proximity Read ↗

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.Semantic proximity Read ↗

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.Semantic proximity Read ↗

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.Semantic proximity Read ↗

A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.Semantic proximity Read ↗

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.Semantic proximity Read ↗

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Semantic proximity Read ↗

Clinical and genetic studies in patients with Lafora disease from Pakistan.Semantic proximity Read ↗

Lafora disease due to EPM2B mutations: a clinical and genetic study.Semantic proximity Read ↗

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.Semantic proximity Read ↗

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