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Overexpression of Adenosine Kinase in Patients with Epilepsy Associated With Sturge-Weber Syndrome

Author(s): Guoming Luan, Xiongfei Wang, Fan Chen, Qing Gao, Jian zhou, Yuguang Guan, Jing Wang, Feng Zhai, Yin Chen, Tianfu Li


Background: The Sturge-Weber syndrome (SWS), a vascular disorder with leptomeningeal capillary-venous malformations, is thought to be caused by somatic mutations in the GNAQ gene. However, the relationship between SWS and epileptogenesis is still unknown.Overexpression of adenosine kinase (ADK) has been regarded as a pathologic hallmark of epilepsy. We hypothesize that abnormal expression of ADK, may play an important role in
epileptogenesis of SWS patients with refractory epilepsy.

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