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EFHC1 gene
Known as:
EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1
, EFHC1
, MYOCLONIN 1
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National Institutes of Health
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Related topics
Related topics
1 relation
MICU2 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
J. Bailey
,
Chris Patterson
,
+20 authors
A. Delgado-Escueta
Genetics in Medicine
2017
Corpus ID: 3245092
Purpose:EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions…
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2012
2012
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
L. de Nijs
,
Nathalie Wolkoff
,
B. Coumans
,
A. Delgado-Escueta
,
T. Grisar
,
B. Lakaye
Human molecular genetics
2012
Corpus ID: 14112435
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized…
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2012
2012
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
M. Katano
,
T. Numata
,
+8 authors
Y. Mori
Cell calcium
2012
Corpus ID: 17435818
2010
2010
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures
C. Léon
,
L. Nijs
,
G. Chanas
,
A. Delgado-Escueta
,
T. Grisar
,
B. Lakaye
Epilepsy Research
2010
Corpus ID: 3087169
Highly Cited
2009
Highly Cited
2009
EFHC1 interacts with microtubules to regulate cell division and cortical development
L. Nijs
,
C. Léon
,
+4 authors
B. Lakaye
Nature Neuroscience
2009
Corpus ID: 32249722
Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic…
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2009
2009
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy
D. Bai
,
J. Bailey
,
+14 authors
A. Delgado-Escueta
Epilepsia
2009
Corpus ID: 26338630
Purpose: Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation‐harboring…
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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.
Marcelo J. Murai
,
R. C. Sassonia
,
+5 authors
Í. Lopes-Cendes
Archives of biochemistry and biophysics
2008
Corpus ID: 19183480
2006
2006
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
L. de Nijs
,
B. Lakaye
,
+5 authors
G. Chanas
Experimental cell research
2006
Corpus ID: 20110961
2006
2006
Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families
D. Pinto
,
Sandrien Louwaars
,
+5 authors
B. Koeleman
Epilepsia
2006
Corpus ID: 20168220
Summary: Purpose: The EFHC1 gene, encoding a protein with a Ca2+‐sensing EF‐hand motif, is localized at 6p12 and was recently…
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Highly Cited
2004
Highly Cited
2004
Mutations in EFHC1 cause juvenile myoclonic epilepsy
Toshimitsu Suzuki
,
A. Delgado-Escueta
,
+25 authors
K. Yamakawa
Nature Genetics
2004
Corpus ID: 32916803
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed…
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