A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy
| العنوان: | A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy |
|---|---|
| المؤلفون: | Bader Shirah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Hussein Algahtani, Muhammad Imran Naseer, Ahmad Albarakaty |
| المصدر: | Journal of Epilepsy Research. 10:40-43 |
| بيانات النشر: | Korean Epilepsy Society, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Mutation, Deficiency syndrome, biology, business.industry, medicine.medical_treatment, 05 social sciences, Cerebral metabolism, medicine.disease, Bioinformatics, medicine.disease_cause, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Slc2a1 gene, medicine, biology.protein, Myoclonic epilepsy, 0501 psychology and cognitive sciences, GLUT1, business, Atonic seizure, 030217 neurology & neurosurgery, Ketogenic diet |
| الوصف: | Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the SLC2A1 gene. Mutations in SLC2A1 will lead to a variety of symptoms known as GLUT1 deficiency syndrome. In this article, we report a novel heterozygous intronic variant c.1278+12delC in the SLC2A1 gene in a Saudi patient with myoclonic epilepsy. We also report a new clinical phenotype where the patient has pure myoclonic epilepsy with no focal, absence, or atonic seizures and normal developmental and cognitive functions that started in childhood rather than infancy. Our study enriches the mutation-spectrum of the SLC2A1 gene and stresses on the importance of whole-exome sequencing in the diagnosis of genetic epilepsies. Early diagnosis and initiation of a ketogenic diet are important goals for the successful management of patients with GLUT1 deficiency syndrome. |
| تدمد: | 2233-6257 2233-6249 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::1a4cd9769a42fea6fad12b7159f3ec1dTest https://doi.org/10.14581/jer.20007Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........1a4cd9769a42fea6fad12b7159f3ec1d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22336257 22336249 |
|---|