Article
Further delineation of phenotypic spectrum of SCN2A-related disorder.
American journal of medical genetics. Part A - 1 Mar 2022
Richardson Ruth, Baralle Diana, Bennett Christopher, Briggs Tracy, Bijlsma Emilia K, Clayton-Smith Jill, Constantinou Panayiotis, Foulds Nicola, Jarvis Joanna, Jewell Rosalyn, Johnson Diana S, McEntagart Meriel, Parker Michael J, Radley Jessica A, Robertson Lisa, Ruivenkamp Claudia, Rutten Julie W, Tellez James, Turnpenny Peter D, Wilson Valerie, Wright Michael, Balasubramanian Meena
Abstract excerpt
SCN2A-related disorders include intellectual disability, autism spectrum disorder, seizures, episodic ataxia, and schizophrenia. In this study, the phenotype-genotype association in SCN2A-related disorders was further delineated by collecting detailed clinical and molecular characteristics. Using previously proposed genotype-phenotype hypotheses based on variant function and position, the potential of phenotype...
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