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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 prediction from the variants found was examined. Patients were identified through the Deciphering Developmental Disorders study and gene matching strategies. Phenotypic information and variant interpretation evidence were collated. Seventeen previously unreported patients and five patients who had been previously reported (but with minimal phenotypic and segregation data) were included (10 males, 12 females; median age 10.5 years). All patients had developmental delays and the majority had intellectual disabilities. Seizures were reported in 15 of 22 (68.2%), four of 22 (18.2%) had autism spectrum disorder and no patients were reported with episodic ataxia. The majority of variants were de novo. One family had presumed gonadal mosaicism. The correlation of the use of sodium channel-blocking antiepileptic drugs with phenotype or genotype was variable. These data suggest that variant type and position alone can provide some predictive information about the phenotype in a proportion of cases, but more precise assessment of variant function is needed for meaningful phenotype prediction. © 2021 Wiley Periodicals LLC.


Ruth Richardson, Diana Baralle, Christopher Bennett, Tracy Briggs, Emilia K Bijlsma, Jill Clayton-Smith, Panayiotis Constantinou, Nicola Foulds, Joanna Jarvis, Rosalyn Jewell, Diana S Johnson, Meriel McEntagart, Michael J Parker, Jessica A Radley, Lisa Robertson, Claudia Ruivenkamp, Julie W Rutten, James Tellez, Peter D Turnpenny, Valerie Wilson, Michael Wright, Meena Balasubramanian. Further delineation of phenotypic spectrum of SCN2A-related disorder. American journal of medical genetics. Part A. 2022 Mar;188(3):867-877

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PMID: 34894057

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