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EFHC1 gene

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

Papers overview

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Review
2017
Review
2017
Purpose:EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions… 
2012
2012
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized… 
Highly Cited
2009
Highly Cited
2009
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic… 
2009
2009
Purpose:  Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation‐harboring… 
2006
2006
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
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed…