<i>SLC6A1</i>基因新生突變致肌陣攣-失張力性癲癇兩例并文獻復習_Journal of Epilepsy

Journal of Epilepsy

Supervisor：Ministry of Education of the People's Republic of China Sponsor：Sichuan University
Editor-in-chief：ZHOU DONG
Publishing period： Bimonthly ISSN：2096-0247 CN：51-1762/R

SLC6A1基因新生突變致肌陣攣-失張力性癲癇兩例并文獻復習

Journal of Epilepsy | 2026, 12(1): 87-92
First online：

Article Views：30
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Cited by：0

Authors：

劉涵 ¹ , 薛峣 ¹ , 包淑平 ¹ , 王正飛 ¹ ,  孔慶霞 ²

1. ;
2. ;

Corresponding?author：

孔慶霞, Email: kxdqy8@sohu.com

Keywords：

肌陣攣-失張力性癲癇; SLC6A1基因; 基因突變; 臨床表型

DOI：

10.7507/2096-0247.202511001

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Citation： 劉涵, 薛峣, 包淑平, 王正飛, 孔慶霞. SLC6A1基因新生突變致肌陣攣-失張力性癲癇兩例并文獻復習. Journal of Epilepsy, 2026, 12(1): 87-92. doi: 10.7507/2096-0247.202511001 Copy

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5.	Stefanski A, Perez-Palma E, Brunger T, et al. SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain, 2023, 146(12): 5198-5208.
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11.	Palmer S, Towne MC, Pearl PL, et al. SLC6A1 Mutation and ketogenic diet in epilepsy with myoclonic-atonic seizures. Pediatr Neurol, 2016, 64: 77-79.
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5. Stefanski A, Perez-Palma E, Brunger T, et al. SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain, 2023, 146(12): 5198-5208.
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11. Palmer S, Towne MC, Pearl PL, et al. SLC6A1 Mutation and ketogenic diet in epilepsy with myoclonic-atonic seizures. Pediatr Neurol, 2016, 64: 77-79.
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SLC6A1基因新生突變致肌陣攣-失張力性癲癇兩例并文獻復習

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