A5078132958- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Hormonal Regulation and Hypertension
- Ion channel regulation and function
- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- Cholesterol and Lipid Metabolism
- Viral Infectious Diseases and Gene Expression in Insects
- Drug Transport and Resistance Mechanisms
Navarre Institute of Health Research
2021
Universidad de Navarra
2019-2021
Abstract Dravet Syndrome (DS) is an encephalopathy with epilepsy associated multiple neuropsychiatric comorbidities. In up to 90% of cases, it caused by functional happloinsufficiency the SCN1A gene, which encodes alpha subunit a voltage-dependent sodium channel (Nav1.1). Preclinical development new targeted therapies requires accessible animal models recapitulate disease at genetic and clinical levels. Here we describe that C57BL/6 J knock-in mouse strain carrying heterozygous, clinically...
Dravet syndrome is a genetic encephalopathy characterized by severe epilepsy combined with motor, cognitive, and behavioral abnormalities. Current antiepileptic drugs achieve only partial control of seizures provide little benefit on the patient's neurological development. In >80% cases, disease caused haploinsufficiency SCN1A gene, which encodes alpha subunit Nav1.1 voltage-gated sodium channel. Novel therapies aim to restore expression in order address all manifestations. We evidence that...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding sterol 27-hydroxylase. Disruption of bile acid biosynthesis pathway and accumulation toxic precursors such as cholestanol cause chronic diarrhea, bilateral juvenile cataracts, tissue deposition cholesterol (xanthomas), progressive motor/neuropsychiatric alterations. We have evaluated therapeutic potential adeno-associated virus (AAV) vectors expressing a CTX mouse model....
An amendment to this paper has been published and can be accessed via a link at the top of paper.