Citation Impact
Citing Papers
Structural Variation in the Human Genome and its Role in Disease
2010
2017 Standout
Pathophysiology of Migraine: A Disorder of Sensory Processing
2017 Standout
Genetic Influences on Brain Gene Expression in Rats Selected for Tameness and Aggression
2014 StandoutNobel
The effect of thymoquinone on intractable pediatric seizures (pilot study)
2010
Loss of Munc18-1 long splice variant in GABAergic terminals is associated with cognitive decline and increased risk of dementia in a community sample
2015
Benchmarking the stability of human detergent-solubilised voltage-gated sodium channels for structural studies using eel as a reference
2015 StandoutNobel
Astrocytes: biology and pathology
2009 Standout
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
2012
Fatal Head Injury in Children Younger Than 2 Years in New York City and an Overview of the Shaken Baby Syndrome
2009
Na+ Channel ? Subunits: Overachievers of the Ion Channel Family
2011
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
2010
Heart rate variability in normal and pathological sleep
2013
Molecular Architecture of the Mouse Nervous System
2018 Standout
Positive association between benign familial infantile convulsions and LGI4
2009
Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease
2016
The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy
2012
Inhibitory Interneuron Deficit Links Altered Network Activity and Cognitive Dysfunction in Alzheimer Model
2012
The cerebellum and cognition
2018 Standout
A Review on Central Nervous System Effects of Gastrodin
2018 Standout
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
2002
NaV1.1 channels and epilepsy
2010
European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society — First Revision
2010 Standout
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Progress report on new antiepileptic drugs: a summary of the Seventh Eilat Conference (EILAT VII)
2004
Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3
2007
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009
2010 Standout
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
2009 StandoutNobel
Classification of epilepsies and seizures: historical perspective and future directions
2012
Thymoquinone: Potential cure for inflammatory disorders and cancer
2011 Standout
Thymoquinone and its therapeutic potentials
2015 Standout
The genetic landscape of the epileptic encephalopathies of infancy and childhood
2015
Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
2010
Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy
2006
The adolescent brain and age-related behavioral manifestations
2000 Standout
novoSNP, a novel computational tool for sequence variation discovery
2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
2005
Predicting the Functional Effect of Amino Acid Substitutions and Indels
2012 Standout
The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol
2011
Modeling the human Na<sub>v</sub>1.5 sodium channel: structural and mechanistic insights of ion permeation and drug blockade
2017 StandoutNobel
A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout
mTOR at the nexus of nutrition, growth, ageing and disease
2020 Standout
An SCN9A channelopathy causes congenital inability to experience pain
2006 StandoutNature
NRF2 and NF-қB interplay in cerebrovascular and neurodegenerative disorders: Molecular mechanisms and possible therapeutic approaches
2018 Standout
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
2006
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
2004
Alzheimer Disease: An Update on Pathobiology and Treatment Strategies
2019 Standout
Retinal hemorrhage and brain injury patterns on diffusion-weighted magnetic resonance imaging in children with head trauma
2013
Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
2013 StandoutNobel
Targeting Oxidative Stress in Central Nervous System Disorders
2016
Autosomal dominant nocturnal frontal lobe epilepsy
2004
Principles of early drug discovery
2010 Standout
The role of inflammation in epilepsy
2010
New developments in the neuroradiological diagnosis of craniocerebral trauma
2005
Cognitive, linguistic and affective disturbances following a right superior cerebellar artery infarction: A case study
2008
Neutrophil extracellular traps in immunity and disease
2017 Standout
Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission
2012 Nature
NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders
2008
New concepts in classification of the epilepsies: Entering the 21st century
2011
Inherited disorders of voltage-gated sodium channels
2005
Diagnosis of inflammatory demyelination in biopsy specimens: a practical approach
2008
An Overview of Heart Rate Variability Metrics and Norms
2017 Standout
Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying anScn1aGene Mutation
2007
Cellular and Molecular Mechanisms of Pain
2009 StandoutNobel
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
2010
EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases
2008
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations
2004
BACE1-/- mice exhibit seizure activity that does not correlate with sodium channel level or axonal localization
2010
Role of the Blood–Brain Barrier in the Nutrition of the Central Nervous System
2014
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome
2013
Moderate and severe traumatic brain injury in adults
2008 Standout
Vision-based motion detection, analysis and recognition of epileptic seizures—A systematic review
2012
Genome-wide association studies for common diseases and complex traits
2005 Standout
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
2002
The Evaluation of Suspected Child Physical Abuse
2015 Standout
International Union of Pharmacology. XLVII. Nomenclature and Structure-Function Relationships of Voltage-Gated Sodium Channels
2005 Standout
Selection and Evaluation of Tagging SNPs in the Neuronal-Sodium-Channel Gene SCN1A: Implications for Linkage-Disequilibrium Gene Mapping
2003
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
2011
22q11.2 deletion syndrome
2015 Standout
Sodium channelSCN1Aand epilepsy: Mutations and mechanisms
2010
De novo mutations in epileptic encephalopathies
2013 Nature
Mapping short DNA sequencing reads and calling variants using mapping quality scores
2008 Standout
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Ohtahara syndrome with emphasis on recent genetic discovery
2011
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
2002
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
A comprehensive review in current developments of benzothiazole-based molecules in medicinal chemistry
2014 Standout
Glycosaminoglycans and their proteoglycans: host‐associated molecular patterns for initiation and modulation of inflammation
2006 Standout
Tensor Decomposition for Signal Processing and Machine Learning
2017 Standout
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
2017 Standout
Magnesium in Man: Implications for Health and Disease
2014 Standout
Specific deletion of Na V 1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
2012
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
2007
The Therapeutic Potential of Apigenin
2019 Standout
Multimodal Data Fusion: An Overview of Methods, Challenges, and Prospects
2015
Three independent lines of evidence suggest retinoids as causal to schizophrenia
1998
Synthetic Siglec-9 Agonists Inhibit Neutrophil Activation Associated with COVID-19
2021 StandoutNobel
Sodium Channel β4, a New Disulfide-Linked Auxiliary Subunit with Similarity to β2
2003
Developmental Neurotoxicity of Pyrethroid Insecticides: Critical Review and Future Research Needs
2004
What is at stake in a classification?
2011
Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome
2014
Religious Orders Study and Rush Memory and Aging Project
2018 Standout
Computer vision and deep learning techniques for pedestrian detection and tracking: A survey
2018 Standout
Pharmacology of the Na v 1.1 domain IV voltage sensor reveals coupling between inactivation gating processes
2017 StandoutNobel
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Classification and Epilepsy: The Future Awaits
2011
Functional Effects of Two Voltage-Gated Sodium Channel Mutations That Cause Generalized Epilepsy with Febrile Seizures Plus Type 2
2001
Persistent Sodium Current and Its Role in Epilepsy
2007
Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology
2016
Chemical Pesticides and Human Health: The Urgent Need for a New Concept in Agriculture
2016 Standout
Works of Berten Ceulemans being referenced
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-XpTER in two pedigrees
1997
Intravenous Immunoglobulins in Refractory Childhood‐Onset Epilepsy: Effects on Seizure Frequency, EEG Activity, and Cerebrospinal Fluid Cytokine Profile
2007
Steroids in intractable childhood epilepsy: Clinical experience and review of the literature
2005
Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial
2011
De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy
2003
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
2001
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome
2007
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
2009
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
2010
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
2008
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
2003
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy
2004
Non-EEG seizure-detection systems and potential SUDEP prevention: State of the art
2013
Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients
2006
Automatic video detection of body movement during sleep based on optical flow in pediatric patients with epilepsy
2010
Effect of levetiracetam in refractory childhood epilepsy syndromes
2003
The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigrees
1997
Encephalomyelitis-associated antimyelin autoreactivity induced by streptococcal exotoxins
2000
Autonomic effects of refractory epilepsy on heart rate variability in children: influence of intermittent vagus nerve stimulation
2011
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
2003
Cortical hypoxic-ischemic brain damage in shaken-baby (shaken impact) syndrome: value of diffusion-weighted MRI
2003
De novo KCNQ2 mutations in patients with benign neonatal seizures
2004