Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We report on 14 additional patients and compare their phenotypic features to previously published patients to identify the clinical hallmarks of this disorder.

中文翻译：

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SLC13A5基因常染色体隐性变异导致的新生儿发育性和癫痫性脑病

SLC13A5 基因的常染色体隐性致病变异与严重的新生儿癫痫、发育迟缓和牙齿发育不全/牙齿发育不全有关。我们报告了另外 14 名患者，并将他们的表型特征与以前发表的患者进行比较，以确定这种疾病的临床特征。