EFHC1 gene

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

Topic mentions per year

Topic mentions per year

2005-2017
01220052017

Papers overview

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2015
2015
Sudden unexpected death in epilepsy (SUDEP) is defined as the abrupt, no traumatic, witnessed or unwitnessed death, occurring in… (More)
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Review
2013
Review
2013
Juvenile Myoclonic Epilepsy (JME) accounts for almost 12% of all epilepsies and is one of the most frequent forms of genetic… (More)
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2012
2012
The transient receptor potential M2 channel (TRPM2) is the Ca(2+)-permeable cation channel controlled by cellular redox status… (More)
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2012
2012
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized… (More)
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2010
2010
EFHC1, a gene mutated in juvenile myoclonic epilepsy, encodes EFHC1, a protein with three DM10 domains and one EF-hand motif. We… (More)
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2009
2009
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic… (More)
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2009
2009
PURPOSE Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring… (More)
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2006
2006
A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function… (More)
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2006
2006
PURPOSE The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, is localized at 6p12 and was recently reported as… (More)
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2005
2005
The gene product of EFHC1 recently implicated in juvenile myoclonic epilepsy (JME) was found to be a homolog of Chlamydomonas… (More)
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