Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations
نویسندگان
چکیده
GABRB3 gene is a recently identified located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which linked to the GABAA receptor. The believed share role inhibitory GABAergic synapses, GABA iron-gated channel function, possible cellular response histamine. β3 expressed cerebral grey matter, thalami, hippocampi, cerebellum, among other structures. Faulty function several neurological disorders clinical syndromes. However, spectrum of such not yet well known. We present three case reports highlighting potentially expanding phenotype variable expression children with mutated gene.
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ژورنال
عنوان ژورنال: Oman Medical Journal
سال: 2021
ISSN: ['1999-768X', '2070-5204']
DOI: https://doi.org/10.5001/omj.2021.27