标题
Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy
作者
关键词
-
出版物
Frontiers in Neurology
Volume 12, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2021-06-07
DOI
10.3389/fneur.2021.633637
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。- Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
- (2020) Ji-Hoon Na et al. BRAIN & DEVELOPMENT
- Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
- (2020) Marcello Scala et al. Expert Review of Neurotherapeutics
- Definitions and classification of malformations of cortical development: practical guidelines
- (2020) Mariasavina Severino et al. BRAIN
- Fenfluramine for the Treatment of Dravet Syndrome and Lennox–Gastaut Syndrome
- (2020) Ganna Balagura et al. CNS DRUGS
- Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
- (2020) Federica Malerba et al. Neurology-Genetics
- 10.2174/1381612823666170809115827
- (2018) Simona Balestrini et al. CURRENT PHARMACEUTICAL DESIGN
- De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy
- (2018) Tingsong Li et al. GENES BRAIN AND BEHAVIOR
- Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?
- (2018) Momen Almomen et al. Seminars in Pediatric Neurology
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
- (2018) Sara M. Blazejewski et al. Frontiers in Genetics
- Lacosamide in children with drug-resistant epilepsy
- (2018) Andrea D Rüegger et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- (2017) Anath C Lionel et al. GENETICS IN MEDICINE
- Models for discovery of targeted therapy in genetic epileptic encephalopathies
- (2017) Snezana Maljevic et al. JOURNAL OF NEUROCHEMISTRY
- Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
- (2017) Valentina Cetica et al. NEUROLOGY
- Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant
- (2016) John J. Millichap et al. EPILEPSIA
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- STXBP1encephalopathy
- (2016) Hannah Stamberger et al. NEUROLOGY
- Epileptic Encephalopathy in Infants and Children
- (2016) Carl E. Stafstrom et al. Epilepsy Currents
- The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review
- (2015) Natario L. Couser et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy
- (2015) Leah Fleming et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Epileptic patients with de novoSTXBP1mutations: Key clinical features based on 24 cases
- (2015) Chloé Di Meglio et al. EPILEPSIA
- 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
- SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
- (2014) Marco Biasini et al. NUCLEIC ACIDS RESEARCH
- PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
- (2013) Chihiro Ohba et al. NEUROGENETICS
- Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation
- (2013) Winnie W.Y. Tso et al. PEDIATRIC NEUROLOGY
- Lacosamide in Lennox-Gastaut Syndrome
- (2012) René Andrade-Machado et al. CLINICAL NEUROPHARMACOLOGY
- Neurology of inherited glycosylation disorders
- (2012) Hudson H Freeze et al. LANCET NEUROLOGY
- Clinical spectrum of SCN2A mutations
- (2011) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
- (2010) Anne T. Berg et al. EPILEPSIA
- Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy
- (2009) Davide Mei et al. EPILEPSIA
- The three stages of epilepsy in patients withCDKL5mutations
- (2008) Nadia Bahi-Buisson et al. EPILEPSIA
- Lacosamide: pharmacology, mechanisms of action and pooled efficacy and safety data in partial-onset seizures
- (2008) Ahmad Beydoun et al. Expert Review of Neurotherapeutics
- Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
- (2007) Maria Pintaudi et al. EPILEPSY & BEHAVIOR
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