Genetic Disorders of Gamma-aminobutyric Acid, Glycine, and Serine As Causes of Epilepsy
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Genetic disorders of gamma-aminobutyric acid (GABA), glycine, and serine metabolism and of the GABA and glycine receptors are causes of epilepsy with variable responsiveness to treatment. Pyridoxine-dependent convulsions and the GABA(A) receptor defects are pure epileptic disorders that respond well to treatment. The convulsions associated with 3-phosphoglycerate dehydrogenase deficiency can be completely abolished with amino acid therapy. Epilepsy is a major symptom in succinic semialdehyde dehydrogenase deficiency. The convulsions in these disorders are not responsive or are only partially responsive to treatment.
Metabonomic analysis of cerebrospinal fluid in epilepsy.
Niu D, Sun P, Zhang F, Song F Ann Transl Med. 2022; 10(8):449.
PMID: 35571432 PMC: 9096421. DOI: 10.21037/atm-22-1219.
Neonatal Encephalopathies: A Clinical Perspective.
Andrade E, Chavez W, Shaikh Z, Torres A Cureus. 2019; 11(6):e4948.
PMID: 31453022 PMC: 6701909. DOI: 10.7759/cureus.4948.
Inherited disorders of GABA metabolism.
Pearl P, Hartka T, Cabalza J, Taylor J, Gibson M Future Neurol. 2013; 1(5):631-636.
PMID: 23842532 PMC: 3675887. DOI: 10.2217/14796708.1.5.631.
Glycine receptors support excitatory neurotransmitter release in developing mouse visual cortex.
Kunz P, Burette A, Weinberg R, Philpot B J Physiol. 2012; 590(22):5749-64.
PMID: 22988142 PMC: 3528989. DOI: 10.1113/jphysiol.2012.241299.
Mechanisms of homomeric alpha1 glycine receptor endocytosis.
Huang R, He S, Chen Z, Dillon G, Leidenheimer N Biochemistry. 2007; 46(41):11484-93.
PMID: 17887775 PMC: 2597333. DOI: 10.1021/bi701093j.