A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Contents
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 exhibits developmental delay without dysmorphic fea...
Alternative Titles
Full title
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
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TN_cdi_doaj_primary_oai_doaj_org_article_8c7f34563de04820aa37ab8ad392ba9f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8c7f34563de04820aa37ab8ad392ba9f
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12359
