Türkdoğan, D;
Matthews, E;
Usluer, S;
Gündoğdu, A;
Uluç, K;
Mannikko, R;
Hanna, MG;
... Çağlayan, SH; + view all
(2019)
Possible role of SCN4A skeletal muscle mutation in apnoea during seizure.
Epilepsia Open
10.1002/epi4.12347.
(In press).
Preview |
Text
Matthews_T-rkdo-an_et_al-2019-Epilepsia_Open.pdf - Published Version Download (899kB) | Preview |
Abstract
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG‐confirmed seizures and recurrent apneas. Whole‐exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy.
| Type: | Article |
|---|---|
| Title: | Possible role of SCN4A skeletal muscle mutation in apnoea during seizure |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/epi4.12347 |
| Publisher version: | https://doi.org/10.1002/epi4.12347 |
| Language: | English |
| Additional information: | Copyright © 2019 The Authors. Epilepsia Open published by Wiley Periodicals Inc. on behalf of International League Against Epilepsy. This is an open access article under the terms of the Creative Commons Attribution License 9http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | laryngospasm, SUDEP, myotonia, sodium channel |
| 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 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 |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10076622 |
Archive Staff Only
 |
View Item |
