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19 results

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Page 1
Genetic variations in GABA metabolism and epilepsy.
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC. Feng Y, et al. Seizure. 2022 Oct;101:22-29. doi: 10.1016/j.seizure.2022.07.007. Epub 2022 Jul 15. Seizure. 2022. PMID: 35850019 Free article. Review.
GABA is metabolized by GABA transaminase and succinate semi aldehyde dehydrogenase, which are encoded by the ABAT and ALDH5A1 genes, respectively. Mutations of these genes result in symptoms related to deficiency of GABA transaminase and succinate semi aldehyde dehy …
GABA is metabolized by GABA transaminase and succinate semi aldehyde dehydrogenase, which are encoded by the ABAT and ALDH5A1 genes, …
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.
Morales-Briceño H, Chang FCF, Wong C, Mallawaarachchi A, Wolfe N, Pellegrino da Silva R, Hakonarson H, Sandaradura SA, Guo Y, Christodoulou J, Lagopoulos J, Grattan-Smith P, Fung VSC. Morales-Briceño H, et al. Neurology. 2019 Jan 8;92(2):94-97. doi: 10.1212/WNL.0000000000006744. Neurology. 2019. PMID: 30617166 Free PMC article. No abstract available.
Pediatric neurotransmitter diseases.
Pearl PL, Wallis DD, Gibson KM. Pearl PL, et al. Curr Neurol Neurosci Rep. 2004 Mar;4(2):147-52. doi: 10.1007/s11910-004-0029-1. Curr Neurol Neurosci Rep. 2004. PMID: 14984687 Review.
Of the monoamine group, these are Segawa disease or guanosine triphosphate-cyclohydrolase I deficiency, aromatic L-amino acid decarboxylase deficiency, and tyrosine hydroxylase deficiency. Of the GABA disorders, these are pyridoxine-dependent epilepsy, GAB
Of the monoamine group, these are Segawa disease or guanosine triphosphate-cyclohydrolase I deficiency, aromatic L-amino acid decarbo …
Phenotype of GABA-transaminase deficiency.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.
OBJECTIVE: We report a case series of 10 patients with gamma-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype. ...The second patient had a more severe phenotype and was 7 years of age at initiation …
OBJECTIVE: We report a case series of 10 patients with gamma-aminobutyric acid (GABA)-transaminase deficiency including …
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM. Medina-Kauwe LK, et al. J Inherit Metab Dis. 1999 Jun;22(4):414-27. doi: 10.1023/a:1005500122231. J Inherit Metab Dis. 1999. PMID: 10407778 Review.
4-Aminobutyrate aminotransferase (GABA-transaminase, GABA-T, EC 2.6.1.19) deficiency (McKusick 137150), an inborn error of GABA degradation, has until now been documented in only a single Flemish child. Compared to the other defects of GABA degradation, succinic semialdehy …
4-Aminobutyrate aminotransferase (GABA-transaminase, GABA-T, EC 2.6.1.19) deficiency (McKusick 137150), an inborn error of GABA degra …
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A. Pearl PL, et al. J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. J Child Neurol. 2007. PMID: 17690069 Review.
The disorders of dopamine and serotonin synthesis are aromatic amino acid decarboxylase deficiency, tyrosine hydroxylase deficiency, and disorders of tetrahydrobiopterin synthesis. ...Glycine encephalopathy is typically manifested by refractory neonatal seizures sec …
The disorders of dopamine and serotonin synthesis are aromatic amino acid decarboxylase deficiency, tyrosine hydroxylase deficienc
Estimating bradykinesia severity in Parkinson's disease by analysing gait through a waist-worn sensor.
Samà A, Pérez-López C, Rodríguez-Martín D, Català A, Moreno-Aróstegui JM, Cabestany J, de Mingo E, Rodríguez-Molinero A. Samà A, et al. Comput Biol Med. 2017 May 1;84:114-123. doi: 10.1016/j.compbiomed.2017.03.020. Epub 2017 Mar 23. Comput Biol Med. 2017. PMID: 28351715
Current PD therapies are based on dopamine replacement, and given that bradykinesia is the symptom that best correlates with the dopaminergic deficiency, the knowledge of its fluctuations may be useful in the diagnosis, treatment and better understanding of the disease pro …
Current PD therapies are based on dopamine replacement, and given that bradykinesia is the symptom that best correlates with the dopaminergi …
Mitochondrial purine and pyrimidine metabolism and beyond.
Wang L. Wang L. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):578-594. doi: 10.1080/15257770.2015.1125001. Nucleosides Nucleotides Nucleic Acids. 2016. PMID: 27906631 Review.
The mtDNA depletion syndrome is caused by deficiencies not only in enzymes in dNTP synthesis (TK2, dGK, p53R2, and TP) and mtDNA replication (mtDNA polymerase and twinkle helicase), but also in enzymes in other metabolic pathways such as SUCLA2 and SUCLG1, ABAT and …
The mtDNA depletion syndrome is caused by deficiencies not only in enzymes in dNTP synthesis (TK2, dGK, p53R2, and TP) and mtDNA repl …
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.
The inherited disorders of GABA metabolism include: (1) pyridoxine-dependent seizures (?glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase defic
The inherited disorders of GABA metabolism include: (1) pyridoxine-dependent seizures (?glutamic acid decarboxylase deficiency) (> …
Clinical aspects of the disorders of GABA metabolism in children.
Pearl PL, Gibson KM. Pearl PL, et al. Curr Opin Neurol. 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. Curr Opin Neurol. 2004. PMID: 15021235 Review.
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. Pyridoxine dependent epilepsy is diagnosed clinically but potentially more common …
RECENT FINDINGS: The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase defic
19 results