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

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.

Human molecular genetics - 1 Aug 1993

Lehesjoki A E, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, de la Chapelle A

Abstract excerpt

The gene for Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) has previously been mapped by linkage to markers on chromosome 21q22.3. By analyzing crossover events in multiplex disease families with newly detected markers from the region we were able to narrow the localization of EPM1 to an interval of approximately 7 cM, between loci D21S212 and CD18. To further refine the localization of the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to DNA Primers

Share to Molecular Sequence Data

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 8104628
DOI: 10.1093/hmg/2.8.1229

Genes

PFKL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.PMID 8104628Read ↗

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.Semantic proximity Read ↗

Genetic linkage of Welander distal myopathy to chromosome 2p13.Semantic proximity Read ↗

Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants.Semantic proximity Read ↗

Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study.Semantic proximity Read ↗

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).Semantic proximity Read ↗

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.Semantic proximity Read ↗

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.Semantic proximity Read ↗

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.Semantic proximity Read ↗

A novel locus for inherited myoclonus-dystonia on 18p11.Semantic proximity Read ↗

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.Semantic proximity Read ↗

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.Semantic proximity Read ↗

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13Semantic proximity Read ↗

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