about
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domainAdvances in genetics of juvenile myoclonic epilepsiesEfhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsyMutations in EFHC1 cause juvenile myoclonic epilepsyLaforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.Frontiers in brain imaging and therapeutics. Introduction.Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.Genetic epidemiology and the search for epilepsy genes.Symptomatic lesional epilepsies: introduction.Neuronal channels, receptors and transporters: molecular structure, gating, and pharmacology. Introduction.Glial and epilepsy. Introduction."Jasper's Basic Mechanisms of the Epilepsies" WorkshopIdentification of new and common mutations in the EPM2A gene in Lafora disease.Workshop report: Developing an international collaborative research network in neurocysticercosis and epilepsy.Calcific neurocysticercosis and epileptogenesis.Treatment of neurocysticercosis: current status and future research needsMutations in NHLRC1 cause progressive myoclonus epilepsy.EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsyGenetics of idiopathic myoclonic epilepsies: an overview.Contribution of Na+,K(+)-ATPase to focal epilepsy: a brief review.Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22Ictal PET in temporal lobe epilepsyRecent developments in the quest for myoclonic epilepsy genes.Treatment of myoclonic epilepsies in infancy and early childhood.Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.Consensus guidelines: preconception counseling, management, and care of the pregnant woman with epilepsy.Is there a genetic relationship between epilepsy and birth defects?Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Sacred disease secrets revealed: the genetics of human epilepsy.Seizures of idiopathic generalized epilepsies.Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.The choice of epilepsy syndromes for genetic analysis.Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.A bioassay for Lafora disease and laforin glucan phosphatase activity.Reduction in rate of epilepsy from neurocysticercosis by community interventions: the Salamá, Honduras study.EFHC1 interacts with microtubules to regulate cell division and cortical development.
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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Antonio V Delgado-Escueta
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P1006
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P244
P31
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0000-0002-1581-6999
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lccn-n82060507