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| Neurotransmitter disorders v1.4 | ABAT | Zornitza Stark edited their review of gene: ABAT: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders v1.4 | ABAT |
Zornitza Stark gene: ABAT was added gene: ABAT was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 28411234; 27596361; 20052547; 10407778; 6148708 Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, MIM# 613163 Review for gene: ABAT was set to GREEN Added comment: Over ten families reported. Disorder is is characterised by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most individuals have profound developmental impairment and some die in infancy. Sources: Expert list |
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