CDKL5 deficiency disorder in males: Five new variants and review of the literature
Barbara Siri, Costanza Varesio, Elena Freri, Francesca Darra, Simone Gana, Davide Mei, Francesco Porta, Elena Fontana, Giulia Galati, Roberta Solazzi, Marcello Niceta, Pierangelo Veggiotti, Enrico Alfei
Topics & Concepts
Missense mutationBiologyPhenotypeGeneticsEpilepsyLoss functionDiseaseGeneDravet syndromeMedicineNeuroscienceInternal medicineGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases