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Pharmacological Characterization of an Antisense Knockdown Zebrafish Model of Dravet Syndrome: Inhibition of Epileptic Seizures by the Serotonin Agonist Fenfluramine
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene are responsible for over 80% of DS cases.… Expand
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
- A. Suls, J. Jähn, +40 authors I. Helbig
- Biology, Medicine
- American journal of human genetics
- 7 November 2013
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of… Expand
Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model.
- Jo Sourbron, Henning Schneider, +5 authors P. de Witte
- Medicine, Biology
- ACS chemical neuroscience
- 17 February 2016
Dravet syndrome (DS) is a severe epilepsy syndrome that starts within the first year of life. In a clinical study, add-on treatment with fenfluramine, a potent 5-hydroxytryptamine (5-HT) releaser… Expand
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Febrile seizures affect 2–4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures… Expand
GPCR ligand dendrimer (GLiDe) conjugates: adenosine receptor interactions of a series of multivalent xanthine antagonists.
- Angéla Kecskés, D. K. Tosh, Q. Wei, Z. Gao, K. Jacobson
- Chemistry, Medicine
- Bioconjugate chemistry
- 15 June 2011
Previously, G protein-coupled receptor (GPCR) agonists were tethered from polyamidoamine (PAMAM) dendrimers to provide high receptor affinity and selectivity. Here, we prepared GPCR ligand--dendrimer… Expand
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
- A. Siekierska, Hannah Stamberger, +73 authors P. de Jonghe
- Medicine, Biology
- Nature Communications
- 12 February 2019
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive,… Expand
Generation of zebrafish models of genetic epilepsy syndromes: focus on Dravet syndrome
- Angéla Kecskés
- 17 September 2015