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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

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MICU2 gene

Papers overview

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2019
2019
EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and… 
2010
2010
Juvenile Myoclonic Epilepsy: Is it an Idiopathic Epilepsy Caused by a Malformation of Cortical Development?
EFHC1 Interacts with Microtubules to Regulate Cell Division and Cortical Development. de Nijs L, Léon C, Nguyen L, Loturco JJ… 
2010
2010
Juvenile myoclonic epilepsy: EFHC1 at the cross–roads?
Epilepsy is a complex disease, accounting for up to 1% in the population, and is characterized by recurrent seizures. The primary… 
2010
2010
Loss of coup-tfi results in increased generation of PV-expressing interneurons and resistance to epileptic seizures
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
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… 
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… 
2005
2005
Association of TRPM12 channel with a novel EF-hand protein, EFHC1
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