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 …