Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Journal of Physiology

• Publication date

  2010-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1113/jphysiol.2010.188482PMID 20351042PMCID PMC2901972
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities*

  2010cited by this paper
• Direct conversion of fibroblasts to functional neurons by defined factors

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• Functional reciprocity between Na+ channel Nav1.6 and β1 subunits in the coordinated regulation of excitability and neurite outgrowth

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• Altered function of the SCN1A voltage-gated sodium channel leads to GABAergic interneuron abnormalities

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• Genetics: Single Gene Mutations in Inherited and Sporadic Epilepsy

  2009cited by this paper
• Voltage-gated sodium channels in pain states: role in pathophysiology and targets for treatment.

  2009cited by this paper
• Induced pluripotent stem cells from a spinal muscular atrophy patient

  2009cited by this paper
• A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

  2009cited by this paper
• Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

  2009cited by this paper
• Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

  2009influential reference
• A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

  2009cited by this paper
• Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors.

  2009cited by this paper
• A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

  2009cited by this paper
• Fine mapping of an epilepsy modifier gene on mouse Chromosome 19

  2009cited by this paper
• SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

  2009cited by this paper
• Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain.

  2009cited by this paper
• Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

  2009cited by this paper
• De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies

  2009cited by this paper
• Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis

  2009cited by this paper
• The SCN1A variant database: a novel research and diagnostic tool

  2009cited by this paper
• A catalog of SCN1A variants.

  2009cited by this paper
• Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

  2008cited by this paper
• Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

  2008cited by this paper
• Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal‐infantile seizures

  2008cited by this paper
• An Emerging Role for Voltage-Gated Na+ Channels in Cellular Migration: Regulation of Central Nervous System Development and Potentiation of Invasive Cancers

  2008cited by this paper
• Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

  2007cited by this paper
• Reduced Sodium Current in Purkinje Neurons from NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy

  2007cited by this paper
• Floxed allele for conditional inactivation of the voltage‐gated sodium channel β1 subunit Scn1b

  2007cited by this paper
• Masking epilepsy by combining two epilepsy genes

  2007cited by this paper
• Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

  2007cited by this paper
• The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

  2007influential reference
• Microdeletions involving the SCN1A gene may be common in SCN1A‐mutation‐negative SMEI patients

  2006cited by this paper
• Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

  2006cited by this paper
• Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

  2006cited by this paper
• Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

  2006cited by this paper
• Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors.

  2006cited by this paper
• Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

  2006cited by this paper
• Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

  2006cited by this paper
• Nerve injury induces robust allodynia and ectopic discharges in Nav1.3 null mutant mice

  2006influential reference
• Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

  2005cited by this paper
• Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channelScn2a

  2005cited by this paper
• Neonatal Epilepsy Syndromes and GEFS+: Mechanistic Considerations

  2005cited by this paper
• Epilepsy and sodium channel gene mutations: gain or loss of function?

  2005cited by this paper
• Sodium channel mutations in epilepsy and other neurological disorders.

  2005cited by this paper
• A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

  2004cited by this paper
• Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

  2004cited by this paper
• Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain.

  2004cited by this paper
• An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node

  2003cited by this paper
• A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

  2003cited by this paper
• Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

  2002cited by this paper
• A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

  2001cited by this paper
• De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

  2001cited by this paper
• Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice.

  2000cited by this paper
• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

  2000cited by this paper
• Neuronal Death and Perinatal Lethality in Voltage-Gated Sodium Channel αII-Deficient Mice

  2000influential reference
• Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum.

  2000cited by this paper
• Distribution of voltage‐gated sodium channel α‐subunit and β‐subunit mRNAs in human hippocampal formation, cortex, and cerebellum

  2000cited by this paper
• Radicals r'aging

  1998cited by this paper
• Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

  1998cited by this paper
• Alternative Splicing of the Sodium Channel SCN8A Predicts a Truncated Two-domain Protein in Fetal Brain and Non-neuronal Cells*

  1997cited by this paper
• Sodium channel alpha-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): different expression patterns in developing rat nervous system.

  1997cited by this paper
• Sodium channel α-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): Different expression patterns in developing rat nervous system

  1997cited by this paper
• Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line.

  1995cited by this paper
• Functional Co-expression of the 1 and Type IIA Subunits of Sodium Channels in a Mammalian Cell Line (*)

  1995cited by this paper
• Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel.

  1992cited by this paper

• Development of Novel Small-Molecule Targeting SCN1A-Associated Severe Myoclonic Epilepsy of Infancy.

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• Autism and hormones: A perspective from the immune system and the gut microbiome.

  2025cites this paper
• Traditional Chinese Medicine Treatment for Epilepsy: Focusing on Voltage-Gated Ion Channels.

  2025cites this paper
• A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders

  2025cites this paper
• SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

  2025cites this paper
• [Modern approaches to the diagnosis and treatment of Dravet syndrome in the Russian Federation. (Literature review and resolution of the Expert Council)].

  2025cites this paper
• Replication of seizure-suppressing effects of alpha-linolenic acid on the Drosophila melanogaster para Shudderer mutant

  2025cites this paper
• The Unique Roles of Ion Channels in Pluripotent Stem Cells in Response to Biological Stimuli

  2024cites this paper
• A Comprehensive Overview of the Current Status and Advancements in Various Treatment Strategies against Epilepsy.

  2024cites this paper
• Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

  2024cites this paper
• Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome

  2023cites this paper
• Efficacy and Safety of Perampanel in Children with Drug-Resistant Focal-Onset Seizures: A Retrospective Review

  2023cites this paper
• Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.

  2023cites this paper
• Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

  2023cites this paper
• Forebrain E-I balance controlled in cognition through coordinated inhibition and inhibitory transcriptome mechanism

  2023cites this paper
• The Role οf Ion Channels in the Development and Progression of Prostate Cancer

  2023cites this paper
• Olivetolic acid, a cannabinoid precursor in Cannabis sativa, but not CBGA methyl ester exhibits a modest anticonvulsant effect in a mouse model of Dravet syndrome

  2022cites this paper
• Intragenic L1 Insertion: One Possibility of Brain Disorder

  2022cites this paper
• Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2

  2022cites this paper
• Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

  2022cites this paper
• LncRNA PVT1 Promotes Neuronal Cell Apoptosis and Neuroinflammation by Regulating miR-488-3p/FOXD3/SCN2A Axis in Epilepsy

  2022cites this paper
• Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma

  2021cites this paper
• Expression and purification of the cardiac sodium channel NaV1.5 for cryo-EM structure determination.

  2021cites this paper
• Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol

  2021cites this paper
• Sodium Channelopathies of Skeletal Muscle and Brain.

  2021cites this paper
• Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease

  2021cites this paper
• Relative Quantification of NaV1.1 Protein in Mouse Brains Using a Meso Scale Discovery-Electrochemiluminescence (MSD-ECL) Method.

  2021cites this paper
• The endocannabinoid system impacts seizures in a mouse model of Dravet syndrome.

  2021cites this paper
• Research on the Direction of Ion Channel Related to Epileptic Seizures

  2020cites this paper
• Measurement of axonal excitability: Consensus guidelines.

  2020cites this paper
• The good, the bad, and the opportunities of the complement system in neurodegenerative disease

  2020cites this paper
• Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.

  2020cites this paper
• Postnatal Role of the Cytoskeleton in Adult Epileptogenesis

  2020cites this paper
• Structure-Function Properties in Sodium Channelopathies: Considerations for Targeted Therapy

  2020cites this paper
• Mitochondrial DNA polymorphisms in Andersen–Tawil syndrome

  2020cites this paper
• De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).

  2020cites this paper
• Estudio de genes candidatos sobre la efectividad y seguridad de la medicación anticonvulsiva en un grupo de pacientes colombianos afectados de epilepsia

  2020cites this paper
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  2020cites this paper
• Associations between CYP3A4, CYP3A5 and SCN1A Polymorphisms and Carbamazepine Metabolism in Epilepsy: A Meta-analysis

  2020cites this paper
• Neurological Disorders and Risk of Arrhythmia

  2020cites this paper
• SCN9A Gene

  2020cites this paper
• Ion channels involvement in neurodevelopmental disorders.

  2020cites this paper
• Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

  2020cites this paper
• Mitochondrial polymorphisms in Andersen–Tawil syndrome

  2020cites this paper
• Changes in Calcium Homeostasis and Gene Expression Implicated in Epilepsy in Hippocampi of Mice Overexpressing ORAI1

  2019cites this paper
• Rodent genetic models of neurodevelopmental disorders and epilepsy.

  2019cites this paper
• Longitudinal change of cardiac electrical and autonomic function and potential risk factors in children with dravet syndrome.

  2019cites this paper
• Emerging roles for multifunctional ion channel auxiliary subunits in cancer

  2019cites this paper
• 009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels

  2019cites this paper
• Introduction to Neurogenetics.

  2019cites this paper
• Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

  2018cites this paper
• Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures

  2018cites this paper
• SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis.

  2018cites this paper
• Progress in the molecular mechanisms of genetic epilepsies using patient‐induced pluripotent stem cells

  2018cites this paper
• Refractory focal epilepsy in a paediatric patient with primary familial brain calcification.

  2018cites this paper
• Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine

  2018cites this paper
• Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

  2018cites this paper
• FOXD3 inhibits SCN2A gene transcription in intractable epilepsy cell models

  2018influential citation
• Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.

  2018cites this paper
• Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome

  2018influential citation
• Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases

  2018cites this paper
• Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures.

  2018cites this paper
• Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy

  2017cites this paper
• Modulation of Abnormal Sodium Channel Currents in Heart and Brain: Hope for SUDEP Prevention and Seizure Reduction

  2017cites this paper
• Chapter 24 – Drosophila

  2017cites this paper
• CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice

  2017cites this paper
• Whole genome sequence association and ancestry‐informed polygenic profile of EEG alpha in a Native American population

  2017cites this paper
• Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

  2017cites this paper
• Precision medicine in genetic epilepsies: break of dawn?

  2017cites this paper
• Voltage‐gated sodium channel &bgr; subunits: The power outside the pore in brain development and disease

  2017cites this paper
• Complications and Other Conditions in Refractory Status Epilepticus That Require Attention

  2017cites this paper
• Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

  2017influential citation
• Three-Dimensional Stereophotogrammetric Analysis of Adults Affected by Dravet Syndrome

  2017cites this paper
• Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

  2017cites this paper
• Calcium Imaging of Neuronal Activity in Drosophila Can Identify Anticonvulsive Compounds

  2016cites this paper
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  2016cites this paper
• Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

  2016cites this paper
• Tuning into Toxins and Channels: The Characterizations of Tv1 and a Human Cardiac Sodium Channel Voltage-Sensor Domain

  2016cites this paper
• Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder

  2016cites this paper
• Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation

  2016cites this paper
• Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation

  2016cites this paper
• Phenotypes of Dravet Syndrome

  2016cites this paper
• An integrative analysis of neuronal hyperexcitability, central pattern generation and aberrant motor behavior through the lens of Drosophila neurogenetics

  2016cites this paper
• Remarkable alterations of Nav1.6 in reactive astrogliosis during epileptogenesis

  2016cites this paper
• Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.

  2016cites this paper
• Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

  2016cites this paper
• Next Generation Sequencing in Neurology and Psychiatry

  2016cites this paper
• Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels

  2015influential citation
• Pathway-driven discovery of epilepsy genes

  2015cites this paper
• The Role of Genetic Interactions in Neurodevelopmental Disorders

  2015cites this paper
• Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.

  2015cites this paper
• Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders.

  2015cites this paper
• Acupuncture, opioid receptors and Na + channels: A novel insight into inhibition of epileptic hyperexcitability

  2015cites this paper
• The Genetics of the Epilepsies

  2015cites this paper
• Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

  2015cites this paper
• Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

  2015cites this paper
• Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathies

  2014cites this paper
• Tau Reduction Prevents Disease in a Mouse Model of Dravet Syndrome

  2014cites this paper
• Mutational Consequences of Aberrant Ion Channels in Neurological Disorders

  2014cites this paper
• Voltage-gated sodium channels and the pathogenesis of epilepsy

  2014cites this paper