Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report
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DOI：
10.1002/ajmg.a.61802
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发表时间：
2020-08-17
影响因子：
2
通讯作者：
Lahdetie, Jaana
中科院分区：
文献类型：
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作者：
Arvio, Maria;Lahdetie, Jaana
2014年发表了SLC13A5基因纯合隐性或复合杂合突变导致早期婴儿癫痫性脑病亚型25（OMIM 615905）。先前的临床报告描述了年轻患者，老年SLC13A5不仅是儿科问题，而且可能影响患者数十年，导致严重的智力残疾，严重的运动障碍和异常的脑电图，而没有活动性癫痫。成人的其他诊断提示是小尺寸，痉挛和严重磨损，由于牙釉质发育不全型。
Homozygous recessive or compound heterozygous mutations inSLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged SLC13A5is not just a pediatric problem but may affect the patient for decades resulting in profound intellectual disability, severe motor handicap, and abnormal electroencephalography without active epilepsy. Other diagnostic hints in adults are small size, spasticity and severe abrasion due to amelogenesis imperfecta of the hypoplastic type.