Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants

Author:

Alawadhi Abdulla,Morgan Angela T.,Mucha Bettina E.,Scheffer Ingrid E.,Myers Kenneth A.ORCID

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription;Zhang;Mol. Cell,2011

2. De novo mutations in moderate or severe intellectual disability;Hamdan;PLoS Genet.,2014

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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