Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T et al.
Biomed Research International, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
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
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N et al.
Cell, 2015
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Pal D et al.
Epilepsia, 2015
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS et al.
Journal of Neurogenetics, 2013
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
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
Medina MT et al.
Neurology, 2008
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
Ma S et al.
Epilepsy Research, 2006
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