Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine
Abstract Background Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school‐age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-07-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1264 |
| _version_ | 1818978158996619264 |
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| author | Xiao Neng Mao Xiao Chen Yuanlu Li Qinyan Shu Li Song Zhanyi |
| author_facet | Xiao Neng Mao Xiao Chen Yuanlu Li Qinyan Shu Li Song Zhanyi |
| author_sort | Xiao Neng |
| collection | DOAJ |
| description | Abstract Background Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school‐age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify novel genetic causes of BECTS. Methods We conducted whole‐exome sequencing on a patient with BECTS and validated the findings by Sanger sequencing in a pedigree with three patients. Results CHRNA4 c.1007G>A was identified in three patients with BECTS in a pedigree. Carbamazepine, which should be carefully used in BECTS, was observed to be effective in the treatment of our atypical BECTS proband based on the molecular diagnosis of CHRNA4. Conclusion This is the first study on CHRNA4 variant in BECTS, which widened the genetic spectrum of BECTS and contributed to precise medicine in BECTS. |
| first_indexed | 2024-12-20T16:39:12Z |
| format | Article |
| id | doaj.art-1ec061b18caa475ba8e4897fe72db3bb |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-20T16:39:12Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-1ec061b18caa475ba8e4897fe72db3bb2022-12-21T19:33:03ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-07-0187n/an/a10.1002/mgg3.1264Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicineXiao Neng0Mao Xiao1Chen Yuanlu2Li Qinyan3Shu Li4Song Zhanyi5Department of Pediatric Neurology Chenzhou First People's Hospital Chenzhou ChinaDepartment of Medical Genetics Maternal and Child Health Hospital of Hunan province Changsha ChinaDepartment of Pharmacy Chenzhou First People's Hospital Chenzhou ChinaDepartment of Neuroelectrophysiology Chenzhou First People's Hospital Chenzhou ChinaDepartment of Medical Genetics Maternal and Child Health Hospital of Hunan province Changsha ChinaDepartment of Pediatrics Maternal and Child Health Hospital of Chenzhou city Chenzhou ChinaAbstract Background Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school‐age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify novel genetic causes of BECTS. Methods We conducted whole‐exome sequencing on a patient with BECTS and validated the findings by Sanger sequencing in a pedigree with three patients. Results CHRNA4 c.1007G>A was identified in three patients with BECTS in a pedigree. Carbamazepine, which should be carefully used in BECTS, was observed to be effective in the treatment of our atypical BECTS proband based on the molecular diagnosis of CHRNA4. Conclusion This is the first study on CHRNA4 variant in BECTS, which widened the genetic spectrum of BECTS and contributed to precise medicine in BECTS.https://doi.org/10.1002/mgg3.1264centrotemporalCHRNA4epilepsypedigreerolandic |
| spellingShingle | Xiao Neng Mao Xiao Chen Yuanlu Li Qinyan Shu Li Song Zhanyi Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine Molecular Genetics & Genomic Medicine centrotemporal CHRNA4 epilepsy pedigree rolandic |
| title | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| title_full | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| title_fullStr | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| title_full_unstemmed | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| title_short | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| title_sort | novel variant in chrna4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine |
| topic | centrotemporal CHRNA4 epilepsy pedigree rolandic |
| url | https://doi.org/10.1002/mgg3.1264 |
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