Associated Papers
Neonatal Encephalopathy due to Glutaminase Deficiency in a Neonate.
Achanta U et al.
Clinical Case Reports, 2024
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.
Bazgir A et al.
Neurogenetics, 2024
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L et al.
Jimd Reports, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S2.xlsx › table_S2
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L et al.
Jama Neurology, 2019
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