Back to search

Article

Expression of mRNA encoding two gain-of-function <i>cyfip2</i> variants associated with DEE65 results in spontaneous seizures in <i>Xenopus laevis</i> tadpoles

2022-12-10

Abstract excerpt

<h4>ABSTRACT</h4> Developmental and epileptic encephalopathies (DEE) are a genetically diverse group of disorders with similar early clinical presentations. DEE65 is caused by de novo , non-synonymous, gain-of-function mutations in CYFIP2. It presents in early infancy as hypotonia, epileptic spasms and global developmental delay. While modelling loss-of-function mutations can be done using knockdown or knockout...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
80c179b4-7a98-54c0-bae8-467297f53348
DOI
10.1101/2022.12.07.519540
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Expression of mRNA encoding two gain-of-function <i>cyfip2</i> variants associated with DEE65 results in spontaneous seizures in <i>Xenopus laevis</i> tadpolesDOI 10.1101/2022.12.07.519540
Knockdown of <i>NeuroD2</i> leads to seizure-like behaviour, brain neuronal hyperactivity and a leaky blood-brain barrier in a <i>Xenopus laevis</i> tadpole model of DEE75Semantic proximity
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathySemantic proximity
Early onset motor defects and electrographic seizures in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122KSemantic proximity
Characterisation and automated quantification of induced seizure-related behaviours in <i>Xenopus laevis</i> tadpolesSemantic proximity
Early death and neuronal abnormalities in <i>depdc5</i> loss-of-function mosaic zebrafish modelsSemantic proximity
Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.Semantic proximity
Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disabilitySemantic proximity
Phenotypic analysis of catastrophic childhood epilepsy genes: The Epilepsy Zebrafish ProjectSemantic proximity
Phenotypic analysis of catastrophic childhood epilepsy genes.Semantic proximity
Novel missense variants of TAF1 are associated with infantile epileptic spasms and impaired neuronal excitability and developmentSemantic proximity
Humanization of <i>Drosophila</i> Gαo to model <i>GNAO1</i> paediatric encephalopathiesSemantic proximity
A Zebrafish Platform to Model Human <i>SCN2A</i> and <i>SCN8A</i> Epilepsy and Evaluate Anti-Seizure MedicationsSemantic proximity
Select a neighboring publication to make it the new centre.