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SZT2 mutation in a boy with intellectual disability, seizures and autistic features.

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0 Published in 2018 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2018.10.008

Abstract: The seizure threshold 2 (SZT2) gene has been shown to confer a low seizure threshold and may enhance epileptogenesis in mice. However, its biological function is still not known. Mutations in SZT2 have been reported… read more here.

Keywords: intellectual disability; disability; boy; autistic features ... See more keywords