A5002881249- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Transcranial Magnetic Stimulation Studies
- RNA regulation and disease
- Neurological disorders and treatments
- Muscle activation and electromyography studies
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Genetic Neurodegenerative Diseases
- Genetic Syndromes and Imprinting
- Ion Transport and Channel Regulation
- Amino Acid Enzymes and Metabolism
- Genomic variations and chromosomal abnormalities
- Infectious Encephalopathies and Encephalitis
- GABA and Rice Research
- Metabolism and Genetic Disorders
- Vestibular and auditory disorders
- Neurological and metabolic disorders
- Autoimmune Neurological Disorders and Treatments
- Neurological Complications and Syndromes
- Herbal Medicine Research Studies
- Protein Tyrosine Phosphatases
- Pharmacological Effects and Toxicity Studies
VA Greater Los Angeles Healthcare System
2008-2019
VA West Los Angeles Medical Center
2010-2019
University of California, Los Angeles
2008-2019
Nippon Soken (Japan)
2017
RIKEN
2017
Groupe des Écoles Nationales d'Économie et Statistique
2016
West Los Angeles College
2012-2016
Los Angeles Medical Center
2012
United States Department of Veterans Affairs
2008
National Autonomous University of Honduras
2008
<b>Background: </b> Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in <i>Myoclonin1/EFHC1</i> chromosome 6p12.1 segregating 20% Hispanic families with JME. <b>Objective: To examine what percentage consecutive JME clinic cases have <i>Myoclonin1/EFHC1</i>. <b>Methods: We screened 44 patients from Mexico and Honduras 67 Japan using heteroduplex analysis direct sequencing. <b>Results: found five...
In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes electroencephalography (EEG) and subtle microscopic brain dysplasia called microdysgenesis.Using Sanger sequencing, we sequenced exomes six members a large family affected epilepsy confirmed cosegregation in all 37 members. We screened an additional 310 patients this disorder for variants DNA melting-curve analysis targeted real-time sequencing gene encoding...
Abstract Background : Influenza‐related encephalopathy or encephalitis is not rare in children. However, it well understood why the brain lesion develops from influenza infection. The purpose of this study was to clarify its pathogenesis by analyzing clinical and neuroradiological findings patients having influenza‐related lesions. Methods 10 children with lesions were analyzed. Eight had consistent diagnosis acute two postinfectious focal encephalitis. Results results magnetic resonance...
Summary GABRB3 is important to neurodevelopment, and appears be influenced by non‐Mendelian epigenetic mechanisms. abnormalities have been implicated in a variety of neurodevelopmental conditions presenting epilepsy phenotypes, including childhood absence epilepsy, Angelman syndrome, autism. Gabrb3 disruption mice also results seizure ataxia, sensory learning disorders. For an expanded treatment this topic see Jasper’s Basic Mechanisms the Epilepsies, Fourth Edition (Noebels JL, Avoli M,...
Summary Purpose: The β3 subunit of the γ‐aminobutyric acid type A receptors (GABA –Rs) is an essential component GABA –Rs in fetal, perinatal, and adult mammalian brain. Various transcripts gene ( GABRB3 ) produce various proteins with different N‐termini. Rare variants this N‐terminus (exon 1A exon 2) protein segregate affected family members two multigeneration‐multiplex families remitting childhood absence epilepsy (rCAE), suggesting a major Mendelian for rare CAE. Therefore, could be...
Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring Mendelian gene that encodes protein with one EF-hand motif (EFHC1) in chromosome 6p12. We observed doubly heterozygous and three missense mutations EFHC1 segregating as an autosomal dominant 21 affected members six Hispanic JME families from California Mexico. 2006, similar novel were reported sporadic familial Caucasian Italy Austria. this study, asked if coding single...
Abstract Juvenile myoclonic epilepsy ( JME ), the most common genetic epilepsy, remains enigmatic because it is considered one disease instead of several diseases. We ascertained three large multigenerational/multiplex pedigrees from Honduras with differing subsyndromes, including Childhood Absence Epilepsy evolving to CAE / ; pedigree 1), adolescent onset pyknoleptic absence pA 2), and classic cJME 3). All phenotypes were validated, symptomatic persons various epilepsies, asymptomatic EEG...
The building of the brain is a multistep process that requires coordinate expression thousands genes and an intense nucleocytoplamic transport RNA proteins. This mediated by karyopherins comprise importins exportins. Here we investigated role ß-importin IPO8 during mouse cerebral corticogenesis as several its cargoes have been shown to be essential this process. First, showed Ipo8 mRNA expressed in at various embryonic ages with clear signal sub-ventricular/ventricular zone, cortical plate...
OBJECTIVE: GENESS’ aim is to accelerate discovery of new genes causing classic juvenile myoclonic epilepsy (cJME). BACKGROUNG: JME a common epilepsy, representing 3-12% all epilepsies. In the last decade, six mutation-harboring Mendelian (CaCNB4, CaCNa1, Ca Sensor receptor, GABRA1, GABRd and EFHC1), almost unique rare families, except EFHC1, have been identified in cJME. Consequently, there no cure. Here, we report gene (myclonin 3) for using genome-wide linkage mapping combined with whole...
OBJECTIVE: To describe the experience of GENESS international consortium to accelerate discovery genes causing juvenile myoclonic epilepsy (JME) and childhood absence (CAE). BACKGROUND: The physicians researchers from USA, Latin America, Japan, Spain, Italy Belgium collaborate find more for epilepsies study their function as first step finding repairs cures. This collaboration discovered mutations JME in chromosome 6p11 (EFHC1), CAE 15q12 (GABRB3) Progressive Myoclonus Epilepsy Lafora 6q24...