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

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

Study supported by Italian Ministry of Health - Program GR-2016-02363337

Related Organizations

Istituto Neurologico Carlo Besta
Italy

Keywords

Epilepsy, SLC13A5 gene

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