Yang Qian-Zhou, Spelbrink Emily M, Nye Kimberly L, Hsu Emily R, Porter Brenda E
Division of Child Neurology, Department of Neurology, Stanford University School of Medicine, CA, USA.
TESS Research Foundation, Redwood City, CA, USA.
Child Neurol Open. 2020 Jun 8;7:2329048X20931361. doi: 10.1177/2329048X20931361. eCollection 2020 Jan-Dec.
Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient's seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Seizures began during the neonatal period in 22 patients. Although seizures are quite severe in many patients later in life, seizure freedom was attainable in a minority of patients. Multiple patients' chronic seizure management included a few common medications, phenobarbital and valproic acid in particular. Patients EEGs had a relatively well-preserved background for age, even in the face of frequent seizures, little slowing and multiple normal EEGs and do not support an epileptic encephalopathy. Other causes for the motor and cognitive delay beyond epilepsy warrant further study.
SLC13A5基因（一种柠檬酸钠协同转运蛋白）的突变会导致一种罕见的常染色体隐性癫痫（EIEE25），该病始于新生儿期，并伴有运动和认知障碍。患者的癫痫发作负担、发作症状及脑电图（EEG）表现尚未得到充分描述。本文报告了23例年龄在3个月至29岁之间的患者的数据。22例患者的癫痫始于新生儿期。尽管许多患者在生命后期癫痫发作相当严重，但少数患者可实现无癫痫发作。多名患者的慢性癫痫治疗使用了几种常用药物，尤其是苯巴比妥和丙戊酸。患者的脑电图在年龄方面背景相对保存良好，即使面对频繁发作，几乎没有减慢，多次脑电图正常，不支持癫痫性脑病的诊断。除癫痫外，导致运动和认知发育迟缓的其他原因值得进一步研究。
