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- Publisher
- American Medical Association
- Copyright
- Copyright 2018 American Medical Association. All Rights Reserved.
- ISSN
- 2168-6149
- eISSN
- 2168-6157
- DOI
- 10.1001/jamaneurol.2018.2941
- Publisher site
- See Article on Publisher Site
Abstract
Key PointsQuestionWhat is the consequence of glutaminase deficiency? FindingsThis study of 2 families with 4 affected children used exome sequencing followed by functional analysis to show that biallelic loss-of-function pathogenic variants in the glutaminase gene GLS lead to early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, and death within weeks after birth. MeaningBased on these results, it is hypothesized that glutaminase deficiency disturbs glutamine-glutamate homeostasis and leads to neonatal lethal epileptic encephalopathy and respiratory insufficiency; this emphasizes its importance for respiratory regulation, neurotransmission, and survival.
Journal
JAMA Neurology – American Medical Association
Published: Mar 21, 2019