| Autor: |
Yan-Ting Lu, Chung-Yao Hsu, Yo-Tsen Liu, Chung-Kin Chan, Yao-Chung Chuang, Chih-Hsiang Lin, Kai-Ping Chang, Chen-Jui Ho, Ching-Ching Ng, Kheng-Seang Lim, Meng-Han Tsai |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Biomedical Journal, Vol 45, Iss 3, Pp 542-548 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2319-4170 |
| DOI: |
10.1016/j.bj.2021.05.003 |
| Popis: |
Background: Periventricular nodular heterotopia (PVNH) is caused by abnormal neuronal migration, resulting in the neurons accumulate as nodules along the surface of the lateral ventricles. PVNH often cause epilepsy, psychomotor development or cognition problem. Mutations in FLNA (Filamin A) is the most common underlying genetic etiology. Our purpose is to delineate the clinical and imaging spectrum that differentiates FLNA-positive and FLNA-negative PVNH patients. Methods: We included 21 patients with confirmed PVNH. The detailed clinical information, electroencephalography, and other clinical findings were recorded. Detailed brain MR imaging was assessed. Mutation analysis of the FLNA gene was used Sanger sequencing or a next generation sequencing based assay. Results: FLNA mutations were identified in 9 patients (7 females and 2 males), including two nonsense, two splice site, three frameshift, and two missense mutations. In FLNA-positive group, 8 patients had anterior predominant bilateral symmetric presentation and only one had asymmetrical distribution and dilated ventricles. Extra-cerebral features were more often observed in FLNA-positive group than FLNA-negative group. Conclusion: Genetics of PVNH is heterogenous, and mutations in FLNA gene account for less than half of the patients in our cohort. Our finding between FLNA-positive and FLNA-negative patients could guide the clinicians to select relevant genetic testing. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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