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Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain developmentDisruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceAdvances in genetics of juvenile myoclonic epilepsiesMolecular targets for antiepileptic drug developmentMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentEfhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.Understanding Genotypes and Phenotypes in Epileptic EncephalopathiesEtiology of a genetically complex seizure disorder in Celf4 mutant miceHippocampal seizure resistance and reduced neuronal excitotoxicity in mice lacking the Cav2.3 E/R-type voltage-gated calcium channelThe mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagellaCalcium channel dysfunction in inferior colliculus neurons of the genetically epilepsy-prone ratCellular and network mechanisms of spike-wave seizures.Complex seizure disorder caused by Brunol4 deficiency in mice.The genetics of status epilepticus.The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionGenetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.The membrane proteome of sensory cilia to the depth of olfactory receptors.LGI2 truncation causes a remitting focal epilepsy in dogs.Familial clustering of seizure types within the idiopathic generalized epilepsies.Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsPathogenic 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.Mutations in prickle orthologs cause seizures in flies, mice, and humans.Ethical, legal, and social dimensions of epilepsy genetics.Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.Genes associated with idiopathic epilepsies: a current overview.Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Contrast gain control abnormalities in idiopathic generalized epilepsy.Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.The flagellum of Trypanosoma brucei: new tricks from an old dogThe state of the art in the genetic analysis of the epilepsiesDNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Sacred disease secrets revealed: the genetics of human epilepsy.Genetics of idiopathic generalized epilepsies.Seizures of idiopathic generalized epilepsies.Meta-analysis identifies seven susceptibility loci involved in the atopic marchAnalysis of genetically complex epilepsies.Genetic epidemiology of epilepsy or what do we tell families?
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@ast
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@en
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@nl
type
label
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@ast
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@en
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@nl
prefLabel
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@ast
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@en
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in EFHC1 cause juvenile myoclonic epilepsy
@en
P2093
Adriana Ochoa
Astrid Rasmussen
Dongsheng Bai
Francisco Rubio-Donnadieu
Hirokazu Oguni
Jaime Ramos-Peek
Johji Inazawa
Julia N Bailey
Kripamoy Aguan
P2860
P2888
P304
P3181
P356
10.1038/NG1393
P407
P50
P577
2004-07-18T00:00:00Z