Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant
ObjectiveThis research intends to examine the clinical characteristics and genetic diversity of a child experiencing epilepsy with myoclonic-atonic seizures (EMAS) attributed to a variant in the SLC6A1 gene.MethodsA male child diagnosed with EMAS underwent clinical and electroencephalographic evalua...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1492062/full |
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| author | Zhen Li Zhen Li Changming Han Hongwei Zhao |
| author_facet | Zhen Li Zhen Li Changming Han Hongwei Zhao |
| author_sort | Zhen Li |
| collection | DOAJ |
| description | ObjectiveThis research intends to examine the clinical characteristics and genetic diversity of a child experiencing epilepsy with myoclonic-atonic seizures (EMAS) attributed to a variant in the SLC6A1 gene.MethodsA male child diagnosed with EMAS underwent clinical and electroencephalographic evaluation. Peripheral blood samples were collected for DNA extraction and subsequent whole-exon gene sequencing. For previously identified patients, high-throughput sequencing was utilized, whereas Sanger sequencing was employed for the parents to determine the site of the gene mutation and examine the connection between genotype and phenotype.ResultsThe male child showed delays in intellectual and language development before the disease began. At 1 year and 2 months, he had a febrile seizures, which was succeeded by seizures at 2 years and 9 months; these seizures presented as generalized tonic-clonic, myoclonic, and myoclonic-atonic seizures, along with symptoms showing inattention and hyperactivity. After receiving treatment with levetiracetam (50 mg·kg·d−1), the child has been free of seizures for the last 8 months. Genetic analysis indicated a heterozygous missense variant of c.263T > C (p.L88P) in the SLC6A1 gene in the child, recognized as a spontaneous mutation that has not been previously documented in the literature.ConclusionThe variant in the SLC6A1 gene is implicated as one of the etiological factors contributing to EMAS coupled with neurodevelopmental abnormalities. The identification of this novel mutation enriches the spectrum of known SLC6A1 gene variants. |
| format | Article |
| id | doaj-art-1890fc9cb3954f279612f48f376b451e |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-1890fc9cb3954f279612f48f376b451e2025-01-21T08:36:31ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.14920621492062Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variantZhen Li0Zhen Li1Changming Han2Hongwei Zhao3Department of Pediatrics, Dongguan People’s Hospital (Xiegang), Dongguan, Guangdong, ChinaDepartment of Pediatrics, Anyang Maternal and Child Health Hospital and Anyang Children’s Hospital, Anyang, Henan, ChinaDepartment of Pediatrics, Anyang Maternal and Child Health Hospital and Anyang Children’s Hospital, Anyang, Henan, ChinaDepartment of Pediatrics, Anyang Maternal and Child Health Hospital and Anyang Children’s Hospital, Anyang, Henan, ChinaObjectiveThis research intends to examine the clinical characteristics and genetic diversity of a child experiencing epilepsy with myoclonic-atonic seizures (EMAS) attributed to a variant in the SLC6A1 gene.MethodsA male child diagnosed with EMAS underwent clinical and electroencephalographic evaluation. Peripheral blood samples were collected for DNA extraction and subsequent whole-exon gene sequencing. For previously identified patients, high-throughput sequencing was utilized, whereas Sanger sequencing was employed for the parents to determine the site of the gene mutation and examine the connection between genotype and phenotype.ResultsThe male child showed delays in intellectual and language development before the disease began. At 1 year and 2 months, he had a febrile seizures, which was succeeded by seizures at 2 years and 9 months; these seizures presented as generalized tonic-clonic, myoclonic, and myoclonic-atonic seizures, along with symptoms showing inattention and hyperactivity. After receiving treatment with levetiracetam (50 mg·kg·d−1), the child has been free of seizures for the last 8 months. Genetic analysis indicated a heterozygous missense variant of c.263T > C (p.L88P) in the SLC6A1 gene in the child, recognized as a spontaneous mutation that has not been previously documented in the literature.ConclusionThe variant in the SLC6A1 gene is implicated as one of the etiological factors contributing to EMAS coupled with neurodevelopmental abnormalities. The identification of this novel mutation enriches the spectrum of known SLC6A1 gene variants.https://www.frontiersin.org/articles/10.3389/fped.2024.1492062/fullepilepsy with myoclonic-atonic seizuresSLC6A1 genedevelopmental delaylevetiracetamgenetic variation |
| spellingShingle | Zhen Li Zhen Li Changming Han Hongwei Zhao Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant Frontiers in Pediatrics epilepsy with myoclonic-atonic seizures SLC6A1 gene developmental delay levetiracetam genetic variation |
| title | Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant |
| title_full | Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant |
| title_fullStr | Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant |
| title_full_unstemmed | Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant |
| title_short | Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant |
| title_sort | clinical and genetic analysis of epilepsy with myoclonic atonic seizures caused by slc6a1 gene variant |
| topic | epilepsy with myoclonic-atonic seizures SLC6A1 gene developmental delay levetiracetam genetic variation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1492062/full |
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