De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Issue 5 (29th September 2016)

• Record Type: Journal Article
• Authors: Webster, R.; Cho, M.T.; Retterer, K.; Millan, F.; Nowak, C.; Douglas, J.; Ahmad, A.; Raymond, G.V.; Johnson, M.R.; Pujol, A.; Begtrup, A.; McKnight, D.; Devinsky, O.; Chung, W.K.
• Is Part Of: Clinical genetics. Volume 91:Issue 5(2017)
• Page Start: 756
• Page End: 763
• Publication Date: 2016-09-29
• Subjects: autism -- intellectual disability -- KIAA2022 -- seizures -- whole‐exome sequencing; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12854
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract :