Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana
Author:
Affiliation:
1. Pediatric Medicine and Surgery Centre Hospitalier de Cayenne Cayenne Cedex French Guiana
2. Department of Clinical Genetics Hôpital Robert Debré Paris France
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1929
Reference6 articles.
1. De novo variants in RHOBTB2 , an atypical Rho GTPase gene, cause epileptic encephalopathy
2. Clinvar.https://www.ncbi.nlm.nih.gov/clinvar/variation/870711/
3. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation
4. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
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3. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders;Genetics in Medicine;2023-08
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