Article

Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in mice

2022-12-19

Abstract excerpt

We report on biallelic homozygous and monoallelic de-novo variants in SLITRK3 in 3 unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, intellectual disability, seizures, and global developmental delay. SLITRK3 encodes for a transmembrane protein that is involved in controlling neurite outgrowth and inhibitory synapse develop...

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Literature Corpus work: 76a1c0bf-d37d-509c-be68-66e64a42e65d
DOI: 10.1101/2022.12.19.520993

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