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EFHC1 gene

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

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Related topics

1 relation
MICU2 gene

Papers overview

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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… Expand
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2012
2012
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
The transient receptor potential M2 channel (TRPM2) is the Ca(2+)-permeable cation channel controlled by cellular redox status… Expand
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2010
2010
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures
EFHC1, a gene mutated in juvenile myoclonic epilepsy, encodes EFHC1, a protein with three DM10 domains and one EF-hand motif. We… Expand
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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… Expand
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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… Expand
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2009
2009
Expression Profile and Distribution of Efhc1 Gene Transcript During Rodent Brain Development
One of the putative causative genes for juvenile myoclonic epilepsy (JME) is EFHC1. We report here the expression profile and… Expand
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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.
Human EFHC1 is a member of the EF-hand superfamily of Ca(2+)-binding proteins with three DM10 domains of unclear function. Point… Expand
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2006
2006
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function… Expand
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2006
2006
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.
PURPOSE The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, is localized at 6p12 and was recently reported as… Expand
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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… Expand
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