Search filters

List of works by Antonio V Delgado-Escueta

"Jasper's Basic Mechanisms of the Epilepsies" Workshop

scientific article

A Novel Gene in the Chromosomal Region for Juvenile Myoclonic Epilepsy on 6p12 Encodes a Brain-Specific Lysosomal Membrane Protein ⬇️

scientific article published on November 2, 2001

A bioassay for Lafora disease and laforin glucan phosphatase activity.

scientific article published on 06 September 2013

Advances in genetics of juvenile myoclonic epilepsies

scientific article

Altered patterns of dynorphin immunoreactivity suggest mossy fiber reorganization in human hippocampal epilepsy

scientific article

Angelman syndrome: Correlations between epilepsy phenotypes and genotypes ⬇️

scientific article published on April 1, 1998

Brain synaptosomes in epilepsy: organization of ionic channels and the Na+-K+ pump.

scientific article

Calcific neurocysticercosis and epileptogenesis.

scientific article

Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24 ⬇️

scientific article published on October 1, 1998

Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features

scientific article published on 01 January 2005

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

scientific article

Clinical and CCTV-EEG evaluation in presurgical work-up of temporal and frontal lobe epilepsies

scientific article published on January 1, 1992

Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

scientific article published in February 1996

Clinical approach to the patient with seizures and epilepsies of frontal origin

scientific article published on January 1, 1992

Closed-circuit television videotaping and electroencephalography biotelemetry (video/EEG) in primary generalized epilepsies

scientific article published on 01 January 1987

Combination therapy for status epilepticus: intravenous diazepam and phenytoin.

scientific article published in January 1983

Complex Partial Seizures of Hippocampal and Amygdalar Origin ⬇️

scientific article published on July 1, 1988

Complex partial status epilepticus

scientific article published on 01 January 1983

Complex partial status epilepticus.

scientific article published in September 1988

Consensus guidelines: preconception counseling, management, and care of the pregnant woman with epilepsy.

scientific article

Consensus on diagnosis and management of JME: From founder's observations to current trends.

scientific article

Contribution of Na+,K(+)-ATPase to focal epilepsy: a brief review.

scientific article

Current concepts in neurology: management of status epilepticus.

scientific article published in June 1982

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

scientific article

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.

scientific article published on December 2008

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila.

scientific article

Differentiating frontal lobe seizures from temporal lobe seizures

scientific article published on January 1, 1992

Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.

scientific article published on 16 December 2009

Dynamic [18F]fluorodeoxyglucose positron emission tomography and hypometabolic zones in seizures: reduced capillary influx.

scientific article published in June 1998

EFHC1 interacts with microtubules to regulate cell division and cortical development

scientific article

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

scientific article

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

scientific article

Effects of seizures on ion transport and membrane protein phosphorylation.

scientific article published in January 1983

Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.

scientific article

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

scientific article

Epileptic cell damage and epileptogenesis. Introduction

scientific article published on 01 January 1999

Epileptogenic paroxysms: Modern approaches and clinical correlations ⬇️

scientific article published on 01 July 1979

Evidence for multiple gene loci in the expression of the common generalized epilepsies ⬇️

scientific article published on April 1, 1992

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

scientific article

Familial juvenile myoclonic epilepsy

scientific article published on 01 January 2005

Frontiers in brain imaging and therapeutics. Introduction.

scientific article

GABA/benzodiazepine receptors in human focal epilepsy

scientific article published on January 1, 1992

GABRB3, Epilepsy, and Neurodevelopment

Genetic epidemiology and the search for epilepsy genes.

scientific article

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

scientific article

Genetics of idiopathic myoclonic epilepsies: an overview.

scientific article

Genetics of myoclonic and myoclonus epilepsies.

scientific article published on January 1995

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

scientific article

Glial and epilepsy. Introduction.

scientific article

Glial contribution to seizure: K+ activation of (Na+, K+)-ATPase in bulk isolated glial cells and synaptosomes of epileptogenic cortex

scientific article published on 01 February 1983

Granule cell disorganization in the dentate gyrus: possible alterations of neuronal migration in human temporal lobe epilepsy

scientific article published on January 1, 1992

Hippocampal cell loss in posttraumatic human epilepsy

scientific article published on 01 August 2006

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

scientific article published on June 2008

Ictal PET in temporal lobe epilepsy

scientific article

Identification of new and common mutations in the EPM2A gene in Lafora disease.

scientific article

Initiation, synchronization, and spread of epileptic discharges. Introduction

scientific article published on 01 January 1999

Interictal seizure resections show two configurations of endothelial Glut1 glucose transporter in the human blood-brain barrier.

scientific article published in January 1998

Is juvenile myoclonic epilepsy an autosomal recessive disease?

scientific article published on 01 July 1990

Is there a genetic relationship between epilepsy and birth defects?

scientific article

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

scientific article

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

scientific article published on 01 September 1988

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

scientific article published in December 2002

Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities ⬇️

scientific article published on November 1, 1997

Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease

scientific article published on 23 May 2012

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

scientific article

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

scientific article published on January 1999

Mapping genes in juvenile myoclonic epilepsy

scientific article published on 01 January 1987

Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

scientific article published in October 1998

Multidisciplinary analysis of patients with extratemporal complex partial seizures. II. Predictive value of semiology.

scientific article published in March 1990

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

scientific article

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

scientific article published on 01 August 2000

Mutations in EFHC1 cause juvenile myoclonic epilepsy

scientific article

Mutations in NHLRC1 cause progressive myoclonus epilepsy

scientific article

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development ⬇️

scientific article published on August 27, 2012

Myoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy

Na+ K+-ATPase within neurons and glia in the generation of seizures.

scientific article published in January 1983

Neuroimaging in patients with seizures of probable frontal lobe origin

scientific article published on 01 September 1989

Neuronal channels, receptors and transporters: molecular structure, gating, and pharmacology. Introduction.

scientific article

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

scientific article published on 22 June 2012

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

scientific article

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

scientific article published on 01 May 2008

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.

scientific article

Phosphorylation of brain (NA+,K+)-ATPase alpha catalytic subimits in normal and epileptic cerebral cortex: II. Partial seizures in human epilepsy ⬇️

scientific article published on June 1, 1991

Proglonged epileptic twilight states: continuous recordings with nasopharyngeal electrodes and videotape analysis

scientific article published on March 1, 1978

Rapid preparation of synaptosomes from mammalian brain using nontoxic isoosmotic gradient material (Percoll).

scientific article published in October 1984

Rat brain synaptosomal ATP:AMP-phosphotransferase activity

scientific article published on 01 October 1989

Recent developments in the quest for myoclonic epilepsy genes.

scientific article published on January 2003

Reduction in rate of epilepsy from neurocysticercosis by community interventions: the Salamá, Honduras study.

scientific article published on 28 January 2011

Sacred disease secrets revealed: the genetics of human epilepsy

scientific article

Segregation analysis of juvenile myoclonic epilepsy

scientific article published on 01 January 1988

Seizures of idiopathic generalized epilepsies.

scientific article

Sodium outflux and influx within nerve terminals from chronic epileptogenic foci ⬇️

scientific article published on October 12, 1979

Special report. The nature of aggression during epileptic seizures

scientific article published on 01 September 1981

Status epilepticus

scientific article published on 01 November 1993

Status epilepticus: recent trends and prospects

scientific article published on December 1, 1997

Status epilepticus: summary

scientific article published on 01 January 1983

Subdural Recording and Electrical Stimulation for Cortical Mapping and Induction of Usual Seizures ⬇️

scientific article published on January 1, 1994

Surface ictal electroencephalographic patterns in frontal vs temporal lobe epilepsy.

scientific article published in November 1991

Surgical outcomes in pure frontal lobe epilepsy and foci that mimic them.

scientific article published in January 1998

Symptomatic lesional epilepsies: introduction.

scientific article

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

scientific article

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

scientific article

The choice of epilepsy syndromes for genetic analysis.

scientific article published on January 1991

The chromosome 6p epilepsy locus: exploring mode of inheritance and heterogeneity through linkage analysis

scientific article published on 01 January 1993

The effects of electroshock convulsions on calcium transport within synaptic terminals

scientific article published on 01 May 1980

The nature of aggression during epileptic seizures

scientific article published on 01 December 2002

The search for epilepsies ideal for clinical and molecular genetic studies.

scientific article

The selection process for surgery of intractable complex partial seizures: surface EEG and depth electrography

scientific article published on 01 January 1983

The treatable epilepsies. (Second of Two Parts).

scientific article published on June 1983

The use of 2-deoxy-2-[18F]fluoro-D-glucose (FDG-PET) positron emission tomography in the routine diagnosis of epilepsy.

scientific article published in May 2002

Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.

scientific article published in October 2005

Treatment of myoclonic epilepsies in infancy and early childhood.

scientific article published in January 2005

Treatment of neurocysticercosis: current status and future research needs

scientific article

Type I complex partial seizures of hippocampal origin: excellent results of anterior temporal lobectomy.

scientific article published in February 1985

Type II complex partial seizures: poor results of anterior temporal lobectomy

scientific article published on 01 January 1984

Videotaping epileptic attacks during stereoelectroencephalography

scientific article published on April 1, 1979

Workshop report: Developing an international collaborative research network in neurocysticercosis and epilepsy.

scientific article

[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]

scientific article published on 01 July 2002

Paulina is supported by:

About Paulina

Help