Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity - Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; et al. (American journal of human genetics, 2024)
Keywords: Adolescent; Adult; Child; Child, Preschool; Epilepsy - genetics; Exome Sequencing; Female; Genetic Diseases, X-Linked - genetics; Heterozygote; Humans; Infant; Life Sciences; Male; Mutation, Missense - genetics; Neurodevelopmental Disorders - genetics; Pedigree; Phenotype; Shal Potassium Channels - genetics