Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini
{"title":"一名对高度纯化大麻二酚有反应的 KCNB1 相关癫痫患者的连续尖波慢速睡眠:病例报告及与文献的比较。","authors":"Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini","doi":"10.1080/13554794.2024.2354952","DOIUrl":null,"url":null,"abstract":"<p><p><i>KCNB1</i>-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic <i>KCNB1</i> variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating <i>KCNB1</i> related encephalopathy.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"68-72"},"PeriodicalIF":0.6000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Continuous spike-wave of slow sleep in a patient with <i>KCNB1</i>-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.\",\"authors\":\"Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini\",\"doi\":\"10.1080/13554794.2024.2354952\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><i>KCNB1</i>-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic <i>KCNB1</i> variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating <i>KCNB1</i> related encephalopathy.</p>\",\"PeriodicalId\":49762,\"journal\":{\"name\":\"Neurocase\",\"volume\":\" \",\"pages\":\"68-72\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurocase\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/13554794.2024.2354952\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurocase","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13554794.2024.2354952","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/20 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.
KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy.
期刊介绍:
Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.