Associated Papers
Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Makhmetov S et al.
Heliyon, 2025
39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Aslan-Kara K et al.
Seizure, 2024
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features.
Hack JB et al.
Neurology. Genetics, 2023
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T et al.
Biomed Research International, 2021
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
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-A06P-01A.domain
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
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F et al.
Epilepsia, 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
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