Property Summary

NCBI Gene PubMed Count 32
Grant Count 18
R01 Count 18
Funding $6,568,390.78
PubMed Score 44.08
PubTator Score 50.14

Knowledge Summary

Patent

No data available

Expression

Gene RIF (24)

PMID Text
25489633 some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
23756481 Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
23756480 Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.
22926142 These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.
22727576 we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
22690745 homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy
22226147 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18823326 The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy.
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AA Sequence

MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAP      1 - 70
VLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVEN     71 - 140
SGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALD    141 - 210
PYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHE    211 - 280
RNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPF    281 - 350
TRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL    351 - 420
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDF    421 - 490
FIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELE    491 - 560
ALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKIN    561 - 630
YYNFVRAFSN                                                                631 - 640
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Text Mined References (32)

PMID Year Title
25489633 2015 Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
25416956 2014 A proteome-scale map of the human interactome network.
23756481 2013 Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
22926142 2012 Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
22727576 2012 Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
22690745 2012 Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
22226147 2012 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
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