Panza, Norman;
Bianchini, Claudia;
Cetica, Valentina;
Balestrini, Simona;
Barba, Carmen;
Ferrari, Anna Rita;
Mei, Davide;
... Guerrini, Renzo; + view all
(2023)
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Epilepsia Open
10.1002/epi4.12843.
(In press).
Preview |
Text
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2.pdf - Published Version Download (3MB) | Preview |
Abstract
Biallelic CNTNAP2 variants have been associated with Pitt-Hopkins like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic CNTNAP2 variants. Initial reports highlighted intractable focal seizures and the failure of epilepsy surgery in children, but subsequent reports did not expand on this aspect. In all our patients (n=7), brain MRI showed bilateral temporal grey/white matter blurring with white matter high signal intensity, more obvious in the T2-FLAIR sequences, consistent with bilateral temporal lobe dysplasia. All patients had focal seizures with temporal lobe onset and semiology, which were recorded in five, showing bilateral independent temporal onset in four. Epilepsy was responsive to anti-seizure medications in two patients (2/7, 28.5%), and pharmaco-resistant in five (5/7, 71.5%). Splice-site variants identified in five patients (5/7, 71.5%) were the most common mutational finding. Our observation expands the phenotypic and genetic spectrum of biallelic CNTNAP2 alterations focusing on the neuroimaging features and provides evidence for an elective bilateral anatomoelectroclinical involvement of the temporal lobes in the associated epilepsy with relevant implications on clinical management.
| Type: | Article |
|---|---|
| Title: | Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/epi4.12843 |
| Publisher version: | https://doi.org/10.1002/epi4.12843 |
| Language: | English |
| Additional information: | Copyright © 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | CNTNAP2, Focal Cortical Dysplasia, genetic epilepsy, temporal lobe epilepsy |
| 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 > Clinical and Experimental Epilepsy |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10184472 |
Archive Staff Only
 |
View Item |
