Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene

Abstract Deficiency of gamma-amino-butyrate aminotransferase (ABAT) is a rare inherited disorder. A six-month-old girl presented with hyper-somnolence, hyperkinetic movements of distal extremities during wakefulness, hypotonia, bi-pyramidal signs, and impaired response to sound and visual stimuli. B...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2017-02, Vol.39 (2), p.161-165
Hauptverfasser:	Nagappa, Madhu, Bindu, Parayil Sankaran, Chiplunkar, Shwetha, Govindaraj, Periasamy, Narayanappa, Gayathri, Krishnan, Ayyappan, Bharath, M.M. Srinivas, Swaminathan, Aarthi, Saini, Jitender, Arvinda, Hanumanthapura R, Sinha, Sanjib, Mathuranath, Pavagada S, Taly, Arun B
Format:	Artikel
Sprache:	eng
Schlagworte:	4-Aminobutyrate Transaminase - deficiency 4-Aminobutyrate Transaminase - genetics ABAT Brain - diagnostic imaging Brain - physiopathology Developmental Disabilities - diagnostic imaging Developmental Disabilities - genetics Developmental Disabilities - physiopathology Diagnosis, Differential Disorders of Excessive Somnolence - diagnostic imaging Disorders of Excessive Somnolence - genetics Disorders of Excessive Somnolence - physiopathology Female Follow-Up Studies GABA Heterozygote Humans Hyperkinesis - diagnostic imaging Hyperkinesis - genetics Hyperkinesis - physiopathology Hyperkinetic movement disorder Hypersomnolence Infant Mutation, Missense Neurology Sequence Homology, Amino Acid
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