Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants
Author:
Funder
National Health and Medical Research Council
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference8 articles.
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3. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome;DeSanto;J. Med. Genet.,2015
4. WAC-related intellectual disability;Varvagiannis,1993
5. [WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep];Zhang;Zhonghua Er Ke Za Zhi,2019
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2. Complimentary vertebrateWacmodels exhibit phenotypes relevant to DeSanto-Shinawi Syndrome;2024-05-26
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4. Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto–Shinawi Syndrome;Biology;2023-04-12
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