Article
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Epilepsia - 1 Nov 2020
Matricardi Sara, De Liso Paola, Freri Elena, Costa Paola, Castellotti Barbara, Magri Stefania, Gellera Cinzia, Granata Tiziana, Musante Luciana, Lesca Gaetan, Oertel Julie, Craiu Dana, Hammer Trine B, Møller Rikke S, Barisic Nina, Abou Jamra Rami, Polster Tilman, Vigevano Federico, Marini Carla
Abstract excerpt
OBJECTIVE: 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. METHODS: We collected clinical features of 14 patients carrying biallelic variants in...
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