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Updated: Sep 10, 2025

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在中复发的FGF12复制的长读序列:对结构机制和异常异形的洞察

Jade Fauqueux1, Laurence Chaton2, Pierre Cleuziou3

  • 1Univ. Lille, Unité de Recherche ULR7364 RADEME - Maladies RAres du DÉveloppement, Fédération Hospitalo-Universitaire FHU-G4 Génomique, Lille, France.

Epilepsia
|August 21, 2025
PubMed
概括

在FGF12基因中经常发生的内基因重复会通过破坏电压通道功能引起发育性和性脑病 (DEE). 长读序列识别了这些结构变异,扩大了对DEE病变的理解.

关键词:
其他国家智力障碍长读测序cDNA分析

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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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