Associated Papers
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Aslan-Kara K et al.
Seizure, 2024
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
Blazekovic A et al.
Genes, 2022
36011376 (PubMed )
Supplement: genes-13-01466-s001.zip › genes-1800327-supplementary.pdf
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T et al.
Biomed Research International, 2021
EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.
Thounaojam R et al.
Epilepsia Open, 2017
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
von Podewils F et al.
Epilepsy & Behavior : E&b, 2015
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain
Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
Jara-Prado A et al.
Seizure, 2012
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D et al.
Epilepsia, 2009
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F et al.
Epilepsia, 2007
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.
Singh B et al.
Human Mutation, 2007
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.
Pinto D et al.
Epilepsia, 2006
Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy.
King SM
Cell Motility and the Cytoskeleton, 2006
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Suzuki T et al.
Nature Genetics, 2004
Select a paper to view details