Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel

Tsai, Meng Han and Chan, Chung Kin and Chang, Ying Chao and Lin, Chih Hsiang and Liou, Chia Wei and Chang, Wen Neng and Ng, Ching Ching and Lim, Kheng Seang and Hwang, Daw Yang (2018) Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Frontiers in Neurology, 9. p. 515. ISSN 1664-2295, DOI

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Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underlying genetic factors is emerging but remains largely uncharacterized. The purpose of this study is to determine the contribution of currently known disease-causing genes in a large cohort (n = 593) of common focal non-lesional epilepsy patients. Methods: The customized focal epilepsy gene panel (21 genes) was based on multiplex polymerase chain reaction (PCR) and sequenced by Illumina MiSeq platform. Results: Eleven variants (1.85%) were considered as pathogenic or likely pathogenic, including seven novel mutations. There were three SCN1A (p.Leu890Pro, p.Arg1636Ter, and p.Met1714Val), three PRRT2 (two p.Arg217Profs*8 and p.Leu298Pro), two CHRNA4 (p.Ser284Leu, p.Ile321Asn), one DEPDC5 (p.Val516Ter), one PCDH19 (p.Asp233Asn), and one SLC2A1 (p.Ser414Ter) variants. Additionally, 16 other rare variants were classified as unknown significance due to inconsistent phenotype or lack of segregation data. Conclusion: Currently known focal epilepsy genes only explained a very small subset of focal epilepsy patients. This indicates that the underlying genetic architecture of focal epilepsies is very heterogeneous and more novel genes are likely to be discovered. Our study highlights the usefulness, challenges and limitations of using the multi-gene panel as a diagnostic test in routine clinical practice in patients with focal epilepsy.

Item Type: Article
Funders: Chang Gung Medical Foundation (CMRPG8F0701, CMPRG8G0251), Ministry of Science and Technology, Taiwan (MOST103-2314-B-182A-025-MY2, 105-2314-B-182A-124, 106-2314-B-182A-077), KMUH104-4T06, KMU-TP104A37, KMUH105-5T03, KMUHS10601, University of Malaya under High Impact Research Grant from the governmental research fund (UM.C/625/1/HIR/MOHE/MED/45)
Uncontrolled Keywords: focal epilepsy; multigene panel; targeted resequencing; NGS; multiplex PCR
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history
R Medicine
Divisions: Faculty of Medicine
Faculty of Science > Institute of Biological Sciences
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 22 Feb 2019 08:51
Last Modified: 22 Feb 2019 08:51

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