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Article

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

9 Jun 2019

Abstract excerpt

OBJECTIVE: Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms. METHODS: Patients with NDD and KCNQ3 DNVs were identified through an international collaboration. Phenotypes were...

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PMID: 31177578
DOI: 10.1002/ana.25522

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