%0 Journal Article
%T GABA Transaminase Deficiency With Survival Into Adulthood
%A Anaita U. Hegde
%A Melissa L. DiBacco
%A P. Ellen Grant
%A Phillip L. Pearl
%A Purva K. Karnavat
%A R. Vyas
%J Journal of Child Neurology
%@ 1708-8283
%D 2019
%R 10.1177/0883073818823359
%X ¦Ã-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease
%K GABA-transaminase deficiency
%K GABA-T deficiency
%K ABAT gene
%K GABA metabolism
%K India
%U https://journals.sagepub.com/doi/full/10.1177/0883073818823359