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Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

2021-01-07

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Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein in the amino acid sensing arm of the mTOR signaling pathway. Due to its large size (3432 amino acids), lack of crystal structure, and absence of functional domains, it is d...

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Literature Corpus work: e08154f4-e02d-55c8-9ae7-2efda62fc856
DOI: 10.1101/2021.01.06.425612

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Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, <i>SZT2</i>

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