A5039298539- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA regulation and disease
- Epilepsy research and treatment
- Ion channel regulation and function
- COVID-19 and Mental Health
- Neuroscience and Neuropharmacology Research
- Multiple Sclerosis Research Studies
- Neurogenetic and Muscular Disorders Research
- RNA and protein synthesis mechanisms
- Autism Spectrum Disorder Research
- T-cell and Retrovirus Studies
- Peripheral Neuropathies and Disorders
- Cerebral Venous Sinus Thrombosis
- Biological Research and Disease Studies
- Psoriasis: Treatment and Pathogenesis
- Plant Pathogens and Resistance
- Psychological Treatments and Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Spinal Hematomas and Complications
- Vitamin D Research Studies
- Diet and metabolism studies
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Ophthalmology and Eye Disorders
- Mental Health Research Topics
Florey Institute of Neuroscience and Mental Health
2018-2024
The University of Melbourne
2018-2024
Fundación Santa Fe de Bogotá
2014-2020
De novo variation in SCN2A can give rise to severe childhood disorders. Biophysical gain of function is seen some patients with early seizure onset developmental and epileptic encephalopathy (DEE). In these cases, targeted reduction expression could substantially improve clinical outcomes. We tested this theory by central administration a gapmer antisense oligonucleotide (ASO) targeting Scn2a mRNA mouse model DEE (Q/+ mice). Untreated Q/+ mice presented spontaneous seizures at P1 did not...
Developmental and epileptic encephalopathies (DEEs) are characterized by pharmaco-resistant seizures with concomitant intellectual disability. Epilepsy of infancy migrating focal (EIMFS) is one the most severe these syndromes. De novo variants in ion channels, including gain-of-function KCNT1, which encodes for sodium activated potassium channel protein KNa1.1, have been found to play a major role etiology EIMFS. Here, we test potential precision therapeutic approach KCNT1-associated DEE...
RNA editing at the Q/R site of GluA2 occurs with ~99% efficiency in healthy brain, so that majority AMPARs contain GluA2(R) instead exonically encoded GluA2(Q). Reduced infcreases AMPA receptor calcium permeability and leads to dendritic spine loss, neurodegeneration, seizures learning impairments. Furthermore, is impaired Alzheimer's disease (AD), raising possibility unedited GluA2(Q)-containing contribute synapse loss neurodegeneration AD. If true, then inhibiting expression GluA2(Q),...
Abstract De novo variants in the Na V 1.2 voltage‐gated sodium channel gene SCN2A are among major causes of developmental and epileptic encephalopathies (DEE). Based on their biophysical impact conductance gating, DEE can be classified into gain‐of‐function (GoF) or loss‐of‐function (LoF). Clinical functional data have linked early seizure onset to GoF variants, whereas late is associated with loss function. This study aims assess LoF cultured neuronal network activity explore modulation by...
Cavernous sinus syndrome (CSS) is a rare condition characterised by ophthalmoplegia, proptosis, ocular and conjunctival congestion, trigeminal sensory loss Horner’s syndrome. These signs symptoms result from the involvement of cranial nerves passing through cavernous sinus. We report case 53-year-old man with history daily stabbing headache associated dizziness, progressive blurred vision, right pain, ptosis ophthalmoplegia. After working up patient, meningioma was identified as cause CSS....
Abstract The clinical spectrum associated with SCN2A de novo mutations (DNMs) continues to expand and includes autism disorder or without seizures, in addition early late seizure onset developmental epileptic encephalopathies (DEEs). Recent biophysical studies on variants suggest that the majority of DEE DNMs cause gain function. Gain function SCN2A, principal sodium channel excitatory pyramidal neurons, would result heightened neuronal activity is likely underlie pathology seen patients....
ABSTRACT Developmental and epileptic encephalopathies (DEE) are characterized by pharmacoresistant seizures with concomitant intellectual disability. Epilepsy of infancy migrating focal (EIMFS) is one the most severe these syndromes. De novo mutations in ion channels, including gain-of-function variants KCNT1 , have been found to play a major role etiology EIMFS. Here, we test potential precision therapeutic approach -associated DEE using gene silencing antisense oligonucleotide (ASO)...
Abstract Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy with early childhood onset. Patients DS do not respond well to antiepileptic drugs have only few treatment options available. Here, we evaluated the effect of medium chain triglyceride (MCT) diet therapy in mouse model DS. Methods Scn1a R1407X/+ mice were given diets supplemented MCTs varying ratios decanoic (C10) octanoic (C8) acid or control for 4 weeks. Video monitoring was performed evaluate...
Objective: To characterize a knock-in mouse model of KCNT1 epileptic encephalopathy. Background: Epilepsy infancy with migrating focal seizures (EIMFS) is severe form childhood epilepsy characterized by an early onset, refractory seizures, global developmental delay and cognitive disability. De novo mutations the sodium activated potassium channel gene KCTN1 have been found in up to 50% patients. The p.Pro924Leu mutation has 2 patients EIMFS, vitro studies heterologous expression systems...
OBJECTIVE: To determine ancestry informative markers, haplogroups and frequency of HLA-DRB1 alleles in patients with Multiple Sclerosis (MS) Bogotá, Colombia. BACKGROUND: In European-descended populations the HLA-DRB1*15 polymorphism has been identified as strongest genetic risk factor for MS, whereas HLA-DRB1*14 allele attenuates MS risk. However, strength association these have not reported from low prevalence highly admixed region DESIGN/METHODS: Genomic DNA was isolated purified blood...
OBJECTIVE: To determine whether impulsive traits are more frequent in patients with multiple sclerosis (MS). BACKGROUND: Cognitive dysfunction is present up to 65[percnt] of MS and presumably related demyelination, brain atrophy other neurodegenerative processes. Behavioral disorders like depression, anxiety, bipolar disorder psychosis have also been associated MS. In contrast, less attention has given the study impulsivity DESIGN/METHODS: 60 age sex-matched healthy controls were included....
OBJECTIVE: To describe a patient with peduncullar hallucinosis (PH) secondary to metastatic brainstem lesion. BACKGROUND: PH is an infrequent cause of complex visual hallucinations. It tipically presents vivid, colorful, and sometimes distorted images animals people. Lesions the midbrain, thalamus, or rostral have been associated PH. DESIGN/METHODS: A 69-year-old woman small cell lung cancer was admited 2-week history headache, vomiting progressive ataxia weakness right side. During...
Objective: To determine patient satisfaction in a neurology free clinic Bogota, Colombia and the social academic impact of this model medical students. Background: Colombia’s health system lacks quality clinics for people need. Medical students tend to lose empathy as they move forward their career. The University Hospital Fundacion Santa Fe has been stablished more than 25 years. Over last 10 years 4000 patients with low-income were evaluated, main diagnoses have headache (22,05%), epilepsy...
May 8, 2019April 9, 2019Free AccessDiet during adolescence and association with Multiple Sclerosis in Colombian patients (P4.2-061)Jaime Toro, Daniel Noriega, Jorge Patiño, Maria Reyes-Mantilla, Lisseth Burbano, Saul Reyes, David Cuéllar-Giraldo, Fabián Cortés, Camilo Torres, Ríos, Alejandra DuqueAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P4.2-061 Letters to the Editor