Associated Papers
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
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D et al.
Epilepsia, 2009
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
Medina MT et al.
Neurology, 2008
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