A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference37 articles.
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4. Lack of pur-alpha alters postnatal brain development and causes megalencephaly;Hokkanen;Hum. Mol. Genet.,2012
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1. PURA and GLUT1: Sweet partners for brain health;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-08
2. De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description;Epilepsy and paroxysmal conditions;2024-06-30
3. PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review;Genes;2024-06-27
4. PURA and GLUT1: Sweet partners for brain health;2023-12-02
5. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature;International Journal of Developmental Neuroscience;2023-05-19
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