Data related to article ": Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene"
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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
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2021-03-24
