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EFHC1 gene

Known as: EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1, EFHC1, MYOCLONIN 1 
National Institutes of Health

Related topics

Related topics

1 relation
MICU2 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
Purpose:EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions… 
2012
2012
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized… 
2012
2012
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
2010
2010
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures
Highly Cited
2009
Highly Cited
2009
EFHC1 interacts with microtubules to regulate cell division and cortical development
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic… 
2009
2009
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy
Purpose:  Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation‐harboring… 
2008
2008
Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.
2006
2006
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
2006
2006
Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families
Summary:  Purpose: The EFHC1 gene, encoding a protein with a Ca2+‐sensing EF‐hand motif, is localized at 6p12 and was recently… 
Highly Cited
2004
Highly Cited
2004
Mutations in EFHC1 cause juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed… 
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