Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

Myers, Kenneth A., White, Susan M., Mohammed, Shehla, Metcalfe, Kay A., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Wraige, Elisabeth, Vasudevan, Pradeep C., Balasubramanian, Meena and Scheffer, Ingrid E. 2018. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research 140 , pp. 166-170. 10.1016/j.eplepsyres.2018.01.014

[thumbnail of Myers 2008 Bainbridge Ropers - Epilepsy Research - Supp Video.avi] Video (AVI) - Supplemental Material
Download (18MB)
[thumbnail of Myers 2008 Bainbridge Ropers  - Epilepsy Research - Supplementary Video Caption.pdf]
Preview
PDF - Supplemental Material
Download (6kB) | Preview
[thumbnail of Myers 2008 Bainbridge Ropers Epilepsy Research - rev2.pdf]
Preview
PDF - Accepted Post-Print Version
Download (87kB) | Preview

Abstract

Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features. Seizures are reported in approximately a third of cases; however, the epileptology has not been thoroughly studied. We identified three patients with pathogenic ASXL3 variants and seizures at Austin Health and in the DECIPHER database. These three patients had novel de novo ASXL3 pathogenic variants, two with truncation variants and one with a splice site variant. All three had childhood-onset generalized epilepsy with generalized tonic-clonic seizures, with one also having atypical absence seizures. We also reviewed available clinical data on five published patients with Bainbridge-Ropers syndrome and seizures. Of the five previously published patients, three also had generalized tonic-clonic seizures, one of whom also had possible absence seizures; a fourth patient had absence seizures and possible focal seizures. EEG typically showed features consistent with generalized epilepsy including generalized spike-wave, photoparoxysmal response, and occipital intermittent rhythmic epileptiform activity. Bainbridge-Ropers syndrome is associated with childhood-onset generalized epilepsy with generalized tonic-clonic seizures and/or atypical absence seizures.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 0920-1211
Date of First Compliant Deposit: 28 February 2018
Date of Acceptance: 10 January 2018
Last Modified: 27 Mar 2024 17:34
URI: https://orca.cardiff.ac.uk/id/eprint/109625

Citation Data

Cited 8 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics