Article

An autism-associated mutation in salt inducible kinase 1 causes repetitive behavior and social deficits due to enhanced excitatory neuronal functions in mice.

2021-02-26

Abstract excerpt

<title>Abstract</title> <bold>Background:</bold>Six mutations in the salt inducible kinase 1 (SIK1) coding gene have been identified in the early infantile epileptic encephalopathy (EIEE-30) patients accompanied by autistic symptoms, such as repetitive behavior and social behavioral deficits. Among these mutations, two are nonsense mutations that truncate the C-terminal region. It has been shown that the C-ter...

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Literature Corpus work: 7bef10e8-7961-504e-9868-29061d392f07
DOI: 10.21203/rs.3.rs-241789/v1

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