Homozygous recessive or compound heterozygous mutations in SLC13A5‐gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged <34 years. We describe 54‐ and 56‐year‐old siblings and show that the disorder linked to SLC13A5 is 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.

中文翻译：

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SLC13A5纯合子错义突变c.655G> A，p.Gly219Arg的成人表型：一例报告

SLC13A5基因的纯合隐性或复合杂合突变是早发性小儿癫痫性脑病亚型25（OMIM 615905）的病因，已于2014年发表。以前的临床报告描述了年龄小于34岁的年轻患者。我们描述了54岁和56岁的兄弟姐妹，并表明与SLC13A5相关的疾病不仅是儿科问题，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检查，而没有活动性癫痫病。成人的其他诊断提示是小体型，痉挛和由于发育不良类型的牙釉质发育不全引起的严重磨损。