Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children
出版年份 2021 全文链接
标题
Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children
作者
关键词
Epilepsy of infancy with migrating focal seizures, Developmental epileptic encephalopathy, Phenotype, Genotype
出版物
EPILEPSY RESEARCH
Volume 174, Issue -, Pages 106669
出版商
Elsevier BV
发表日期
2021-05-13
DOI
10.1016/j.eplepsyres.2021.106669
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases
- (2020) Felippe Borlot et al. EPILEPSIA
- KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
- (2019) Mathieu Kuchenbuch et al. BRAIN
- The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
- (2019) Rosemary Burgess et al. ANNALS OF NEUROLOGY
- Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures
- (2018) Mathieu Kuchenbuch et al. EPILEPSIA
- Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
- (2016) Carmen Barba et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
- (2016) Bobby G. Ng et al. HUMAN MUTATION
- TBC1D24genotype–phenotype correlation
- (2016) Simona Balestrini et al. NEUROLOGY
- Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures
- (2016) Jennifer A. Kearney Epilepsy Currents
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy
- (2015) Olga Selioutski et al. JOURNAL OF CLINICAL NEUROPHYSIOLOGY
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
- (2015) Tommy Stödberg et al. Nature Communications
- KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine
- (2014) Carol J. Milligan et al. ANNALS OF NEUROLOGY
- Sodium Channels, Inherited Epilepsy, and Antiepileptic Drugs
- (2014) William A. Catterall Annual Review of Pharmacology and Toxicology
- Dravet syndrome-From epileptic encephalopathy to channelopathy
- (2014) Andreas Brunklaus et al. EPILEPSIA
- Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
- (2013) Amy McTague et al. BRAIN
- A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy
- (2011) Eun Hye Lee et al. BRAIN & DEVELOPMENT
- Child Neurology: Epilepsy of infancy with migrating focal seizures
- (2011) S. Sharma et al. NEUROLOGY
- Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
- (2010) T. Dupre et al. JOURNAL OF MEDICAL GENETICS
- Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology
- (2009) Giangennaro Coppola EPILEPSIA
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started