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

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

Abstract 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 b...

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Bibliographic Details
Main Authors: Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:JIMD Reports
Subjects:
epilepsy
GLS hyperactivity
glutamate
high‐throughput sequencing
phenotypic spectrum
Online Access:https://doi.org/10.1002/jmd2.12359

Internet

https://doi.org/10.1002/jmd2.12359

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