A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant in GLS, detected by trio whole exome sequencing. This boy also e...

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Detalles Bibliográficos
Autores principales: Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., van de Kamp, Jiddeke M., van Hasselt, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159865/
https://www.ncbi.nlm.nih.gov/pubmed/37151363
http://dx.doi.org/10.1002/jmd2.12359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159865/
https://www.ncbi.nlm.nih.gov/pubmed/37151363
http://dx.doi.org/10.1002/jmd2.12359

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