Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
出版年份 2021 全文链接
标题
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations
作者
关键词
ATP1A2, Alternating Hemiplegia of Childhood, Familial Hemiplegic Migraine, Encephalopathy, NMDA Receptor Antagonist, Memantine
出版物
EPILEPSY & BEHAVIOR
Volume 116, Issue -, Pages 107732
出版商
Elsevier BV
发表日期
2021-01-23
DOI
10.1016/j.yebeh.2020.107732
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。- Chaperoning Endoplasmic Reticulum–Associated Degradation (ERAD) and Protein Conformational Diseases
- (2019) Patrick G. Needham et al. Cold Spring Harbor Perspectives in Biology
- Novel therapies for epilepsy in the pipeline
- (2019) Boulenouar Mesraoua et al. EPILEPSY & BEHAVIOR
- Mechanisms of increased hippocampal excitability in the Mashl +/− mouse model of Na+ /K+ -ATPase dysfunction
- (2018) Arsen S. Hunanyan et al. EPILEPSIA
- Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation
- (2018) Olwen C. Murphy et al. JOURNAL OF CLINICAL NEUROPHYSIOLOGY
- Clinical Benefit of NMDA Receptor Antagonists in a Patient WithATP1A2Gene Mutation
- (2018) Keisuke Ueda et al. PEDIATRICS
- Novel E815K knock-in mouse model of alternating hemiplegia of childhood
- (2018) Ashley R. Helseth et al. NEUROBIOLOGY OF DISEASE
- Optimization of the production of knock-in alleles by CRISPR/Cas9 microinjection into the mouse zygote
- (2017) Aurélien Raveux et al. Scientific Reports
- Ketamine: A Review of Clinical Pharmacokinetics and Pharmacodynamics in Anesthesia and Pain Therapy
- (2016) Marko A. Peltoniemi et al. CLINICAL PHARMACOKINETICS
- Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model
- (2016) Pernille Bøttger et al. Scientific Reports
- The Influence of Na+, K+-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence
- (2016) Paula F. Kinoshita et al. Frontiers in Physiology
- Knock-in mouse model of alternating hemiplegia of childhood: Behavioral and electrophysiologic characterization
- (2014) Arsen S. Hunanyan et al. EPILEPSIA
- Role of Na,K-ATPase α1 and α2 Isoforms in the Support of Astrocyte Glutamate Uptake
- (2014) Nina B. Illarionava et al. PLoS One
- Crystal structure of a Na+-bound Na+,K+-ATPase preceding the E1P state
- (2013) Ryuta Kanai et al. NATURE
- Sporadic hemiplegic migraine presenting as acute encephalopathy
- (2012) Kayo Ohmura et al. BRAIN & DEVELOPMENT
- Neurological disease mutations compromise a C-terminal ion pathway in the Na+/K+-ATPase
- (2010) Hanne Poulsen et al. NATURE
- Profound encephalopathy with complete recovery in three children with familial hemiplegic migraine
- (2009) Anthony R Hart et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures
- (2008) Andrea Gallanti et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Epilepsy as part of the phenotype associated withATP1A2mutations
- (2007) Liesbet Deprez et al. EPILEPSIA
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk 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