FONDAZIONE IRCCS ISTITUTO NEUROLOGICO "CARLO BESTA"
Published March 24, 2021 | Version v1
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Data related to article ": Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene"

Authors/Creators

  • 1. Fondazione IRCCS - Istituto Neurologico Carlo Besta di Milano

Description

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

Notes

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

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Additional details

Related works

Is supplement to
Journal article: 10.1111/epi.16699 (DOI)