{"title":"一例发育性癫痫性脑病和巨幼红细胞性贫血的拉伸活化离子通道 TMEM63B 变异新病例","authors":"","doi":"10.1016/j.bdcasr.2024.100043","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div><em>TMEM63B</em> encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous <em>TMEM63B</em> variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a <em>TMEM63B</em> variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).</div></div><div><h3>Case presentation</h3><div>A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a <em>de novo</em> heterozygous variant of <em>TMEM63B</em> (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.</div></div><div><h3>Discussion/Conclusion</h3><div>Although most patients with <em>TMEM63B</em> variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the <em>TMEM63B</em> variant.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant\",\"authors\":\"\",\"doi\":\"10.1016/j.bdcasr.2024.100043\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div><em>TMEM63B</em> encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous <em>TMEM63B</em> variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a <em>TMEM63B</em> variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).</div></div><div><h3>Case presentation</h3><div>A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a <em>de novo</em> heterozygous variant of <em>TMEM63B</em> (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.</div></div><div><h3>Discussion/Conclusion</h3><div>Although most patients with <em>TMEM63B</em> variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the <em>TMEM63B</em> variant.</div></div>\",\"PeriodicalId\":100196,\"journal\":{\"name\":\"Brain and Development Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain and Development Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2950221724000394\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain and Development Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950221724000394","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant
Background
TMEM63B encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous TMEM63B variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a TMEM63B variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).
Case presentation
A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a de novo heterozygous variant of TMEM63B (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.
Discussion/Conclusion
Although most patients with TMEM63B variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the TMEM63B variant.