The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia

Lu, Yan-Ting and Hsu, Chung-Yao and Liu, Yo-Tsen and Chan, Chung Kin and Chuang, Yao-Chung and Lin, Chih-Hsiang and Chang, Kai-Ping and Ho, Chen-Jui and Ng, Ching Ching and Lim, Kheng-Seang and Tsai, Meng -Han (2022) The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia. Biomedical Journal, 45 (3). pp. 542-548. ISSN 2319-4170, DOI

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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 pur-pose 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.

Item Type: Article
Funders: Kaohsiung Chang Gung Me- morial Hospital, Taiwan [CMRPG8G0252] [CMRPG8J0781], Genotype -Tissue Expression (GTEx), Common Fund of the Office of the Director of the National Institutes of Health, United States Department of Health & Human Services
Uncontrolled Keywords: Periventricular heterotopia; MRI; Epilepsy; Brain malformation; FLNA
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 15 Sep 2023 02:59
Last Modified: 15 Sep 2023 02:59

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