Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
about
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain developmentDevelopment and Validation of a New Mouse Model to Investigate the Role of SV2A in EpilepsySelective control of inhibitory synapse development by Slitrk3-PTPδ trans-synaptic interaction.Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammalsGenetic regulation of gene expression in the epileptic human hippocampus.Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulationPathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function.Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?Meta-analysis identifies seven susceptibility loci involved in the atopic marchHigh-speed digital imaging of ependymal cilia in the murine brainPACRG, a protein linked to ciliary motility, mediates cellular signalingLrp4 in astrocytes modulates glutamatergic transmissionThe molecular biology of genetic-based epilepsies.Genes and molecular pathways underpinning ciliopathies.Juvenile myoclonic epilepsy: is it an idiopathic epilepsy caused by a malformation of cortical development?Juvenile myoclonic epilepsy: EFHC1 at the cross-roads?Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.Microtubule binding protein PACRG plays a role in regulating specific ciliary dyneins during microtubule sliding.EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.Defective motile cilia in Prickle2-deficient miceWhole exome sequencing of families with 1q21.1 microdeletion or microduplication
P2860
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P2860
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
@nl
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@ast
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@en
type
label
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
@nl
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@ast
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@en
prefLabel
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
@nl
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@ast
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
@en
P2093
P2860
P50
P3181
P356
P1476
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
@en
P2093
Hiroyuki Miyamoto
Ikuyo Inoue
Tadaharu Tsumoto
Takahiro Suemoto
Takao K Hensch
Takaomi C Saido
Takashi Nakahari
Yuki Hirota
P2860
P304
P3181
P356
10.1093/HMG/DDP006
P407
P577
2009-01-15T00:00:00Z