{"title":"KCNQ2相关癫痫的精确治疗。","authors":"Ingo Borggraefe, Matias Wagner","doi":"10.1055/s-0043-1772667","DOIUrl":null,"url":null,"abstract":"The two most common allelic diseases caused by genetic variants in KCNQ2 are either self-limited familiar neonatal epilepsy ( KCNQ2 -SLFNE) or neonatal onset developmental and epileptic encephalopathy ( KCNQ2 -NEO-DEE). 1 In this issue, Falsaperla et al present genotype – phenotype correlation and discuss tailored antiseizure medication (ASM) approaches for KCNQ2 -related epilepsy. The results support previous fi ndings revealing that sodium channel blockers andphenobarbital arethemostcommonlyused and effective ASM for treatment of KCNQ2 -associated conditions. 2 Epilepsy in KCNQ2 -SLFNE is often self-limited. In contrast, patients with KCNQ2 -NEO-DEE are usually severely affected suffering from frequent seizures refractory to ASM polytherapy and present with signi fi cant comorbidities including intellectual impairment and behavioural disturbances emphasizing the need for a precision therapy.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Precision Therapy in KCNQ2-Related Epilepsy.\",\"authors\":\"Ingo Borggraefe, Matias Wagner\",\"doi\":\"10.1055/s-0043-1772667\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The two most common allelic diseases caused by genetic variants in KCNQ2 are either self-limited familiar neonatal epilepsy ( KCNQ2 -SLFNE) or neonatal onset developmental and epileptic encephalopathy ( KCNQ2 -NEO-DEE). 1 In this issue, Falsaperla et al present genotype – phenotype correlation and discuss tailored antiseizure medication (ASM) approaches for KCNQ2 -related epilepsy. The results support previous fi ndings revealing that sodium channel blockers andphenobarbital arethemostcommonlyused and effective ASM for treatment of KCNQ2 -associated conditions. 2 Epilepsy in KCNQ2 -SLFNE is often self-limited. In contrast, patients with KCNQ2 -NEO-DEE are usually severely affected suffering from frequent seizures refractory to ASM polytherapy and present with signi fi cant comorbidities including intellectual impairment and behavioural disturbances emphasizing the need for a precision therapy.\",\"PeriodicalId\":19421,\"journal\":{\"name\":\"Neuropediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuropediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1772667\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/18 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuropediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0043-1772667","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/18 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
The two most common allelic diseases caused by genetic variants in KCNQ2 are either self-limited familiar neonatal epilepsy ( KCNQ2 -SLFNE) or neonatal onset developmental and epileptic encephalopathy ( KCNQ2 -NEO-DEE). 1 In this issue, Falsaperla et al present genotype – phenotype correlation and discuss tailored antiseizure medication (ASM) approaches for KCNQ2 -related epilepsy. The results support previous fi ndings revealing that sodium channel blockers andphenobarbital arethemostcommonlyused and effective ASM for treatment of KCNQ2 -associated conditions. 2 Epilepsy in KCNQ2 -SLFNE is often self-limited. In contrast, patients with KCNQ2 -NEO-DEE are usually severely affected suffering from frequent seizures refractory to ASM polytherapy and present with signi fi cant comorbidities including intellectual impairment and behavioural disturbances emphasizing the need for a precision therapy.
期刊介绍:
For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world.
Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.