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

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

Epilepsy & behavior : E&B - 1 Nov 2020

Gonsales Marina C, Ribeiro Patrícia A O, Betting Luiz E, Alvim Marina K M, Guerreiro Carlos M, Yasuda Clarissa L, Gitaí Daniel L G, Cendes Fernando, Lopes-Cendes Iscia

Abstract excerpt

The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 mutations should be included in the diagnostic epilepsy gene panels. To investigate the clinical utility of EFHC1 testing, we studied 125...

Read the complete abstract on PubMed

Topics

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

Share to Calcium-Binding Proteins
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myoclonic Epilepsy, Juvenile

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 33181902
DOI: 10.1016/j.yebeh.2020.107469

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.PMID 33181902Read ↗

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

Predictive value of EFHC1 variants for the long-term seizure outcome 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 ↗

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.Semantic proximity Read ↗

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

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

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

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

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

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.Semantic proximity Read ↗

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

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.Semantic proximity Read ↗

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