Epilepsy is a common heterogeneous group of neurological disorders including
electroencephalographic and brain imaging. We used whole exome sequencing and
whole genome sequencing to identify variants in a pedigree associated with
epilepsy. Cranium CT scan showed that the lateral right parietal lobe was
hyperdense, and there were no clear boundaries with brain tissue in affected
cases. Using WES, one exclusive nonsynonymous mutant in gene TSC2 (Chr16:2138307;
c.5240 T
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Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing
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1
Department of Neurology, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China
2
School of Pharmacy, Henan University, 475000 Kaifeng, Henan, China
3
Translational Medicine Center, Huaihe Hospital of Henan University, 475000 Kaifeng, Henan, China
*Correspondence: lxh80726@126.com (Xu-Hong Lin); hndxal@163.com (Lei An)
J. Integr. Neurosci. 2021, 20(2), 393–397;
https://doi.org/10.31083/j.jin2002039
Submitted: 10 September 2020 | Revised: 21 December 2020 | Accepted: 23 February 2021 | Published: 30 June 2021
Copyright: © 2021 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
Abstract
Keywords
Epilepsy
Variant
TSC2
Sequencing
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