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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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2019
2019
We aimed to gain insight into frequencies of genetic variants in genes implicated in neurodevelopmental disorder with epilepsy… 
2019
2019
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and… 
Review
2017
Review
2017
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics… 
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
One of the putative causative genes for juvenile myoclonic epilepsy (JME) is EFHC1. We report here the expression profile and… 
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…