An advance about the genetic causes of epilepsy
Human hereditary epilepsy has been found related to ion channel mutations in voltage-gated channels (Na+, K+, Ca2+, Cl-), ligand gated channels (GABA receptors), and G-protein coupled receptors, such as Mass1. In addition, some transmembrane proteins or receptor genes, including PRRT2 and nAChR, and...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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EDP Sciences
2021-01-01
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| Series: | E3S Web of Conferences |
| Online Access: | https://www.e3s-conferences.org/articles/e3sconf/pdf/2021/47/e3sconf_icepe2021_03068.pdf |
| _version_ | 1819066329056935936 |
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| author | Sun Yu Lu Licheng Li Lanxin Wang Jingbo |
| author_facet | Sun Yu Lu Licheng Li Lanxin Wang Jingbo |
| author_sort | Sun Yu |
| collection | DOAJ |
| description | Human hereditary epilepsy has been found related to ion channel mutations in voltage-gated channels (Na+, K+, Ca2+, Cl-), ligand gated channels (GABA receptors), and G-protein coupled receptors, such as Mass1. In addition, some transmembrane proteins or receptor genes, including PRRT2 and nAChR, and glucose transporter genes, such as GLUT1 and SLC2A1, are also about the onset of epilepsy. The discovery of these genetic defects has contributed greatly to our understanding of the pathology of epilepsy. This review focuses on introducing and summarizing epilepsy-associated genes and related findings in recent decades, pointing out related mutant genes that need to be further studied in the future. |
| first_indexed | 2024-12-21T16:00:37Z |
| format | Article |
| id | doaj.art-0ebfd5b152f04808a4de2e31ff3f41dc |
| institution | Directory Open Access Journal |
| issn | 2267-1242 |
| language | English |
| last_indexed | 2024-12-21T16:00:37Z |
| publishDate | 2021-01-01 |
| publisher | EDP Sciences |
| record_format | Article |
| series | E3S Web of Conferences |
| spelling | doaj.art-0ebfd5b152f04808a4de2e31ff3f41dc2022-12-21T18:58:00ZengEDP SciencesE3S Web of Conferences2267-12422021-01-012710306810.1051/e3sconf/202127103068e3sconf_icepe2021_03068An advance about the genetic causes of epilepsySun Yu0Lu Licheng1Li Lanxin2Wang Jingbo3The School of Molecular and Cellular Biology, University of Illinois at Urbana-ChampaignHigh School Affiliated to Shanghai Jiao Tong UniversityApplied Biology program, University of British ColumbiaSchool of Chemical Machinery and Safety, Dalian University of TechnologyHuman hereditary epilepsy has been found related to ion channel mutations in voltage-gated channels (Na+, K+, Ca2+, Cl-), ligand gated channels (GABA receptors), and G-protein coupled receptors, such as Mass1. In addition, some transmembrane proteins or receptor genes, including PRRT2 and nAChR, and glucose transporter genes, such as GLUT1 and SLC2A1, are also about the onset of epilepsy. The discovery of these genetic defects has contributed greatly to our understanding of the pathology of epilepsy. This review focuses on introducing and summarizing epilepsy-associated genes and related findings in recent decades, pointing out related mutant genes that need to be further studied in the future.https://www.e3s-conferences.org/articles/e3sconf/pdf/2021/47/e3sconf_icepe2021_03068.pdf |
| spellingShingle | Sun Yu Lu Licheng Li Lanxin Wang Jingbo An advance about the genetic causes of epilepsy E3S Web of Conferences |
| title | An advance about the genetic causes of epilepsy |
| title_full | An advance about the genetic causes of epilepsy |
| title_fullStr | An advance about the genetic causes of epilepsy |
| title_full_unstemmed | An advance about the genetic causes of epilepsy |
| title_short | An advance about the genetic causes of epilepsy |
| title_sort | advance about the genetic causes of epilepsy |
| url | https://www.e3s-conferences.org/articles/e3sconf/pdf/2021/47/e3sconf_icepe2021_03068.pdf |
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