Parental germline mosaicism in SCN3A-related severe developmental disorder

We highlight the unpredictable risk of recurrence caused by parental germline mosaicism in pathogenic variants in SCN3A. We would like to provide additional data on the family of patient 1 from our article “Neurological development disorder associated with new SCN3A pathogenic variants: two new cases and literature review” published in 2019 in Brain of Development [1].

Source: Brain and Development - January 22, 2021 Category: Neurology Authors: Luciana Midori Inuzuka, Lucia In ês Macedo-Souza, Matheus Guerra-Peixe, Christiane Cobas Pedreira, Bruno Della-Ripa, Daniel Souza Delgado, Fabiola Monteiro, João Paulo Kitajima, Eliana Garzon, Fernando Kok Tags: Letter to the Editor Source Type: research