Prof Rick Leventer
Honorary (Professorial Fellow)
Department of Paediatrics
258 Scholarly works
2 Projects
HIGHLIGHTS
2026
Journal article
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
DOI: 10.1007/s00401-026-03017-22026
Journal article
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
DOI: 10.1038/s41588-026-02554-62026
Journal article
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
DOI: 10.1002/jmd2.700712026
Journal article
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
DOI: 10.1016/j.ejpn.2025.12.0042026
Journal article
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
DOI: 10.1038/s41586-026-10334-92018
Research Grant
Shenzhen Sanming Project
2015
Journal article
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
DOI: 10.1016/j.ajhg.2015.02.016
RECENT SCHOLARLY WORKS
2025
Journal article
A clinical and genotype-phenotype analysis of MACF1 variants
DOI: 10.1016/j.ajhg.2025.08.0102025
Journal article
Structural mediation of the default-mode network in children with callosal agenesis
DOI: 10.1093/cercor/bhaf1902025
Journal article
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
DOI: 10.1093/braincomms/fcaf0342025
Journal article
ILAE genetic literacy series: Focal cortical dysplasia
DOI: 10.1002/epd2.203082024
Journal article
Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials
DOI: 10.1186/s13023-024-03320-9
RECENT PROJECTS
Research Grant
Cerebral Plasticity or Early Vulnerability? Identifying Critical Periods for Childhood Development and Recovery