Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Proceedings of the National Academy of Sciences of the United States of America

• Publication date

  2004-07-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1073/PNAS.0402482101PMID 15263074PMCID PMC503754
• 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.

• Epileptic Syndromes in Infancy, Childhood and Adolescence

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• Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A

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  2002cited by this paper
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  2002cited by this paper
• Molecular basis of an inherited epilepsy.

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• Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

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• Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

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

  2001cited by this paper
• Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

  2001cited by this paper
• Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?

  2001cited by this paper
• A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

  2001cited by this paper
• First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

  2001cited by this paper
• Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

  2001cited by this paper
• Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

  2001cited by this paper
• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

  2000cited by this paper
• A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

  2000cited by this paper
• Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

  1998cited by this paper
• Molecular basis of charge movement in voltage-gated sodium channels.

  1996cited by this paper
• Effect of arterial blood pressure and serum glucose on brain intracellular pH, cerebral and cortical blood flow during status epilepticus in the white New Zealand rabbit.

  1993cited by this paper
• Panoramic imaging of brain pHi and CBF during penicillin and metrazole induced status epilepticus.

  1992cited by this paper
• 31P NMR study of cerebral metabolism during prolonged seizures in the neonatal dog

  1985cited by this paper

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  2024cites this paper
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  2024cites this paper
• Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

  2023cites this paper
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  2023cites this paper
• An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus

  2023cites this paper
• SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

  2023cites this paper
• Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country

  2022cites this paper
• Gene variant effects across sodium channelopathies predict function and guide precision therapy

  2022cites this paper
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  2021cites this paper
• Epilepsy channelopathies go neddy: stabilizing NaV1.1 channels by neddylation.

  2021cites this paper
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  2021cites this paper
• Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies

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  2021cites this paper
• Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy

  2021cites this paper
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  2020cites this paper
• Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant

  2020cites this paper
• The Role of the Persistent Sodium Current in Epilepsy

  2020cites this paper
• Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

  2020cites this paper
• dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.

  2020cites this paper
• Prax330 reduces persistent and resurgent sodium channel currents and neuronal hyperexcitability of subiculum neurons in a mouse model of SCN8A epileptic encephalopathy.

  2019cites this paper
• In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

  2019cites this paper
• Epilepsy and neurobehavioral abnormalities in mice with a KCNB1 pathogenic variant that alters conducting and non-conducting functions of KV2.1

  2019cites this paper
• Case Studies in Neuroscience: A Novel Amino Acid Duplication in the N-terminus of the Brain Sodium Channel NaV1.1 Underlying Dravet Syndrome.

  2019cites this paper
• Deep Sequencing of Somatosensory Neurons Reveals Molecular Determinants of Intrinsic Physiological Properties.

  2019cites this paper
• Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.

  2018cites this paper
• Nitric oxide augments single persistent Na+ channel currents via the cGMP/PKG signaling pathway in Kenyon cells isolated from cricket mushroom bodies.

  2018cites this paper
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• Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?

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  2017cites this paper
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  2014cites this paper
• Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.

  2014cites this paper
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  2014cites this paper
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• Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures.

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• CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.

  2013cites this paper
• Phenytoin Inhibits the Persistent Sodium Current in Neocortical Neurons by Modifying Its Inactivation Properties

  2013cites this paper
• Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.

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• UNIVERSIDADE FEDERAL DA PARAÍBA CENTRO DE CIÊNCIAS DA SAÚDE CURSO DE GRADUAÇÃO EM FARMÁCIA

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  2012cites this paper
• Nontruncating SCN1A Mutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression*

  2012cites this paper
• Genetics of idiopathic epilepsies.

  2012cites this paper
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  2012cites this paper
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  2012cites this paper
• Overexpression of the VSSC‐associated CAM, beta‐2, enhances LNCaP cell metastasis associated behavior

  2012cites this paper
• Nav1.1 dysfunction in genetic epilepsy with febrile seizures‐plus or Dravet syndrome

  2011influential citation
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  2011cites this paper
• [Ion channel dysfunction in pathogenesis of idiopathic epilepsies].

  2011cites this paper
• SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs

  2011influential citation
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  2011cites this paper
• Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.

  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011influential citation
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  2011cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
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  2010cites this paper
• Scn1a missense mutation impairs GABAA receptor-mediated synaptic transmission in the rat hippocampus.

  2010cites this paper
• Na+ channelopathies and epilepsy: recent advances and new perspectives

  2010cites this paper
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  2010cites this paper
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  2010cites this paper