دورية أكاديمية
Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia
| العنوان: | Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia |
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| المؤلفون: | Zhuangzhuang Yuan, Qian Wang, Chenyu Wang, Yuxing Liu, Liangliang Fan, Yihui Liu, Hao Huang |
| المصدر: | Heliyon, Vol 10, Iss 7, Pp e28674- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Science (General) LCC:Social sciences (General) |
| مصطلحات موضوعية: | Paroxysmal kinesigenic dyskinesia, CACNA1B, Benign adult familial myoclonic epilepsy, Start-loss mutation, ADRA2B, Science (General), Q1-390, Social sciences (General), H1-99 |
| الوصف: | Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients to identify causal mutations. In one young female case, a de novo CACNA1B variant (NM_000718.3:exon3:c.479C > T:p.S160F) was identified as the causative lesion. This finding may broaden the phenotypic spectrum of CACNA1B mutations and provide a prospective cause of primary PKD. Additionally, a novel start-loss variant (NM_000682.7:c.3G > A) within ADRA2B further denied its association with benign adult familial myoclonic epilepsy, and a KCNQ2 E515D variant that was reported as a genetic susceptibility factor for seizures had no damaging effect in this family. In sum, this study established a correlation between CACNA1B and primary PKD, and found valid evidence that further negates the pathogenic role of ADRA2B in benign adult familial myoclonic epilepsy. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2405-8440 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2405844024047054; https://doaj.org/toc/2405-8440 |
| DOI: | 10.1016/j.heliyon.2024.e28674 |
| URL الوصول: | https://doaj.org/article/be5a4e563feb4238a07d320d2d063574 |
| رقم الأكسشن: | edsdoj.be5a4e563feb4238a07d320d2d063574 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 24058440 |
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| DOI: | 10.1016/j.heliyon.2024.e28674 |