UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Efthymiou, S; Salpietro, V; Bettencourt, C; Houlden, H; (2018) Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A. Journal of Pediatric Genetics , 7 (3) pp. 114-116. 10.1055/s-0038-1651526. Green open access

[thumbnail of Bettencourt_Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A_AAM.pdf]
Preview
Text
Bettencourt_Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A_AAM.pdf - Accepted Version

Download (659kB) | Preview

Abstract

Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.

Type: Article
Title: Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A
Location: Germany
Open access status: An open access version is available from UCL Discovery
DOI: 10.1055/s-0038-1651526
Publisher version: https://doi.org/10.1055/s-0038-1651526
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: KAT6A, global developmental delay, startle reflex syndrome
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10094726
Downloads since deposit
57Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item