الملخص
GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine. The β3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures. Faulty GABRB3 function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known. We present three case reports highlighting the potentially expanding clinical phenotype and variable expression in children with mutated GABRB3 gene.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.5001/omj.2021.27
- المجلة
- مجلة عُمان الطبية, 36(2)
- الناشر
- المجلس العُماني للاختصاصات الطبية
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-NC 4.0
اقتبس هذه المقالة
APA 7
Khair, A. M., & Salvucci, A. E. (2021). Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations. Oman Medical Journal, 36(2). https://doi.org/10.5001/omj.2021.27
MLA 9
Khair, Abdulhafeez M., and Alana E. Salvucci. "Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations." Oman Medical Journal, vol. 36, no. 2, 2021. https://doi.org/10.5001/omj.2021.27.
شيكاغو (المؤلف–التاريخ)
Khair, Abdulhafeez M., and Alana E. Salvucci. 2021. "Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations." Oman Medical Journal 36 (2). https://doi.org/10.5001/omj.2021.27.
هارفارد
Khair, A. M. and Salvucci, A. E. (2021) 'Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations', Oman Medical Journal, 36(2). doi:10.5001/omj.2021.27.
فانكوفر
Khair AM, Salvucci AE. Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations. Oman Medical Journal. 2021;36(2). doi:10.5001/omj.2021.27
IEEE
A. M. Khair, and A. E. Salvucci, "Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations," Oman Medical Journal, vol. 36, no. 2, 2021, doi: 10.5001/omj.2021.27.