Add to ORKGEnergy-producing pathways are novel therapeutic targets for the treatment of neurodevelopmental disorders. Here, we focussed on correcting metabolic defects in a catastrophic paediatric epilepsy, Dravet syndrome which is caused by mutations in sodium channel NaV1.1 gene, SCN1A. We utilized a translatable zebrafish model of Dravet syndrome (scn1lab) which exhibits key characteristics of patients with Dravet syndrome and shows metabolic deficits accompanied by down-regulation of gluconeogenesis genes, pck1 and pck2. Using a metabolism-based small library screen, we identified compounds that increased gluconeogenesis via up-regulation of pck1 gene expression in scn1lab larvae. Treatment with PK11195, a pck1 activator and a translocator protein...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Mutations in a voltage-gated sodium channel (SCN1A) result in Dravet Syndrome (DS), a catastrophic c...
Energy-producing pathways are novel therapeutic targets for the treatment of neurodevelopmental diso...
Altered metabolism is an important feature of many epileptic syndromes but has not been reported in ...
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in...
Epilepsy is a common neurological disorder, which affects about 50 million people worldwide. It is m...
Abstract Objective: To pinpoint the earliest cellular defects underlying seizure onset (epileptogeni...
Dravet syndrome (DS) is a catastrophic pediatric epilepsy with severe intellectual disability, impai...
Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activi...
Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activi...
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epileps...
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epileps...
Mutations in a voltage-gated sodium channel (SCN1A) result in Dravet Syndrome (DS), a catastrophic c...
Dravet syndrome (DS) is one of the most frequent genetic epilepsies, with an incidence of 1/30,000. ...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Mutations in a voltage-gated sodium channel (SCN1A) result in Dravet Syndrome (DS), a catastrophic c...
Energy-producing pathways are novel therapeutic targets for the treatment of neurodevelopmental diso...
Altered metabolism is an important feature of many epileptic syndromes but has not been reported in ...
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in...
Epilepsy is a common neurological disorder, which affects about 50 million people worldwide. It is m...
Abstract Objective: To pinpoint the earliest cellular defects underlying seizure onset (epileptogeni...
Dravet syndrome (DS) is a catastrophic pediatric epilepsy with severe intellectual disability, impai...
Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activi...
Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activi...
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epileps...
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epileps...
Mutations in a voltage-gated sodium channel (SCN1A) result in Dravet Syndrome (DS), a catastrophic c...
Dravet syndrome (DS) is one of the most frequent genetic epilepsies, with an incidence of 1/30,000. ...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United St...
Mutations in a voltage-gated sodium channel (SCN1A) result in Dravet Syndrome (DS), a catastrophic c...