Türkdoğan Dilşad, Matthews Emma, Usluer Sunay, Gündoğdu Aslı, Uluç Kayıhan, Mannikko Roope, Hanna Michael G, Sisodiya Sanjay M, Çağlayan Hande S
Medical Faculty, Department of Child Neurology Marmara University Istanbul Turkey.
Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology UCL and National Hospital for Neurology and Neurosurgery London UK.
Epilepsia Open. 2019 Jul 1;4(3):498-503. doi: 10.1002/epi4.12347. eCollection 2019 Sep.
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 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 gene that has been reported in several unrelated families with myotonic disorder. We propose that the 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.
基因突变会导致多种神经肌肉表型，包括肌强直。一部分携带导致肌强直突变的婴儿会经历严重的、危及生命的发作性喉痉挛并伴有呼吸暂停。我们最近发现了与婴儿猝死综合征相关的类似突变。喉痉挛也被认为是某些癫痫性意外猝死（SUDEP）病例的一个促成机制。我们报告了一名脑电图证实有癫痫发作和反复呼吸暂停的婴儿。全外显子组测序在该基因中发现了一个已知的致病突变，该突变已在几个无关的肌强直障碍家族中报道过。我们认为，无论癫痫的潜在病因如何，该突变导致了我们病例中的呼吸暂停。我们认为这支持了喉痉挛可能导致某些SUDEP病例的观点，并暗示了一部分婴儿猝死和癫痫性意外猝死之间可能存在共同机制。
