Possible role of SCN4A skeletal muscle mutation in apnea during seizure.

Autor: Türkdoğan D; Medical Faculty, Department of Child Neurology Marmara University Istanbul Turkey., Matthews E; Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology UCL and National Hospital for Neurology and Neurosurgery London UK., Usluer S; Formerly Affiliated with Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey., Gündoğdu A; Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey., Uluç K; Medical Faculty, Department of Clinical Neurophysiology and Neurology Marmara University Istanbul Turkey., Mannikko R; Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology UCL and National Hospital for Neurology and Neurosurgery London UK., Hanna MG; Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology UCL and National Hospital for Neurology and Neurosurgery London UK., Sisodiya SM; Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK.; Chalfont Centre for Epilepsy Bucks UK., Çağlayan HS; Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey.; İzmir Biomedicine and Genome Center İzmir Turkey.
Jazyk: angličtina
Zdroj: Epilepsia open [Epilepsia Open] 2019 Jul 01; Vol. 4 (3), pp. 498-503. Date of Electronic Publication: 2019 Jul 01 (Print Publication: 2019).
DOI: 10.1002/epi4.12347
Abstrakt: 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.
Competing Interests: EM has received an honorarium for attending an advisory board organized by LUPIN pharmaceuticals. The remaining authors have no conflicts of interest. We confirm that we have read the journal's position on issues involved in ethical publication and confirm that this report is consistent with those guidelines.
Databáze: MEDLINE
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