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

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.

BioMed research international - 1 Jan 2021

Saleem Tayyaba, Mustafa Arooj, Sheikh Nadeem, Mukhtar Maryam, Irfan Mavra, Suqaina Saira Kainat

Abstract excerpt

Juvenile myoclonic epilepsy (JME) is the most prevalent and genetically heterogeneous form of epilepsy and accounts for 10-30% of all the cases worldwide. Ef-hand domain- (c-terminal-) containing protein 1 (EFHC1) encodes for a nonion channel protein and mutations in this gene have been extensively reported in different populations to play a causative role in JME. Linkage between JME and 6p11-12 locus has already...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Mutation

Share to Myoclonic Epilepsy, Juvenile

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 33969125
DOI: 10.1155/2021/7509825
PMCID: PMC8081613

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

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.PMID 33969125Read ↗

EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.Semantic proximity Read ↗

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Semantic proximity Read ↗

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.Semantic proximity Read ↗

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Semantic proximity Read ↗

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Semantic proximity Read ↗

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.Semantic proximity Read ↗

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.Semantic proximity Read ↗

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.Semantic proximity Read ↗

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.Semantic proximity Read ↗

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.Semantic proximity Read ↗

Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.Semantic proximity Read ↗

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Semantic proximity Read ↗

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