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Deep sequencing reveals SLC35A2 somatic variants in MOGHE:molecular and clinical insights
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作者 Huaxia Luo Xiaoqin Ruan +7 位作者 Xianyu Liu Qingzhu Liu Yu Sun Yao Wang Jixin Zhang Lixin Cai Yuwu Jiang Ye Wu 《Journal of Genetics and Genomics》 2025年第10期1296-1299,共4页
Malformations of cortical development(MCDs)represent one of the most common causes of childhood-onset epilepsy,and are often refractory to antiseizure medications(Guerrini,2006;Guerrini and Dobyns,2014;Severino et al.... Malformations of cortical development(MCDs)represent one of the most common causes of childhood-onset epilepsy,and are often refractory to antiseizure medications(Guerrini,2006;Guerrini and Dobyns,2014;Severino et al.,2020).Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy(MOGHE)is a newly recognized subtype of Focal Cortical Dysplasia(FCD),which was officially added to the FCD classification in 2022 by the International League Against Epilepsy(ILAE)(Najm et al.,2022). 展开更多
关键词 antiseizure medications guerrini guerrini childhood onset epilepsy malformations cortical development mcds represent deep sequencing focal cortical dysplasia fcd which malformations cortical development SLC malformation cortical development
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