Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM et al.
Genes, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.
Chen W et al.
The Journal of Clinical Investigation, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova D et al.
Scientific Reports, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.
Bechi G et al.
Neurobiology of Disease, 2015
A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.
Jingami N et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2014
Sodium channels, inherited epilepsy, and antiepileptic drugs.
Catterall WA
Annual Review of Pharmacology and Toxicology, 2014
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.
Volkers L et al.
The Journal of General Physiology, 2013
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Sodium channels and the neurobiology of epilepsy.
Oliva M et al.
Epilepsia, 2012
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Volkers L et al.
The European Journal of Neuroscience, 2011
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP et al.
Epilepsia, 2010
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A et al.
Epilepsia, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Lin WD et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
Chou IC et al.
Human Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.
Stafstrom CE
Journal of Child Neurology, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Human disorders caused by the disruption of the regulation of excitatory neurotransmission.
Steinlein OK
Results and Problems in Cell Differentiation, 2008
GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.
Mrabet H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C et al.
Epilepsia, 2007
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.
Colosimo E et al.
Epilepsia, 2007
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
Barela AJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
Rhodes TH et al.
The Journal of Physiology, 2005
Muscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K et al.
The Journal of Clinical Investigation, 2005
Sodium channel mutations in epilepsy and other neurological disorders.
Meisler MH et al.
The Journal of Clinical Investigation, 2005