Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Aslan-Kara K et al.
Seizure, 2024
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
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
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
de Nijs L et al.
Human Molecular Genetics, 2012
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
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