Article
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
American journal of medical genetics. Part A - 1 Dec 2022
Mazel Benoit, Mallet Delphine, Roucher-Boulez Florence, Signor Candace Ben, Bournez Marie, Darmency Véronique, Bourgeois Valentin, Poe Charlotte, El Khabbaz Fares, Vitobello Antonio, Philippe Christophe, Duffourd Yannis, Thauvin-Robinet Christel, Faivre Laurence, Nambot Sophie
Abstract excerpt
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in patients with 46,XY karyotype and visceroautonomic dysfunction responsible for sudden infant death. First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephalopathy (EE). We provide the...
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