Two Novel SCN1A Missense Mutations in Generalized Epilepsy with Febrile Seizures Plus

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Epilepsia

• Publication date

  2003-09-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1046/j.1528-1157.2003.22503.xPMID 12919402
• 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.

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  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
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  1998cited by this paper

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  2023cites this paper
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  2022cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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  2017cites this paper
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  2016cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014influential citation
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  2013cites this paper
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  2013cites this paper
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  2011cites this paper
• Generalised epilepsy with febrile seizures plus (GEFS+): molecular analysis in a restricted area

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

  2011influential citation
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  2011cites this paper
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  2010cites this paper
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  2009cites this paper
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  2009cites this paper
• A catalog of SCN1A variants.

  2009cites this paper
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  2009influential citation
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  2009cites this paper
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  2009cites this paper
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  2009cites this paper
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  2009cites this paper
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  2009cites this paper
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  2009cites this paper
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  2008cites this paper
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  2008cites this paper
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  2008cites this paper
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  2008cites this paper
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  2007cites this paper
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  2007cites this paper
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  2007cites this paper
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  2007cites this paper
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  2006cites this paper
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  2006cites this paper
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  2006cites this paper
• Review Phenotype definition in epilepsy q

  2006cites this paper
• Mini review Na channel gene mutations in epilepsy—The functional consequences

  2006cites this paper
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  2006cites this paper
• Avances en genética de las epilepsias idiopáticas; el modelo de GEFS+

  2006cites this paper
• Genes and loci involved in febrile seizures and related epilepsy syndromes

  2006cites this paper
• Phenotype definition in epilepsy.

  2006cites this paper
• Neonatal Epilepsy Syndromes and GEFS+: Mechanistic Considerations

  2005cites this paper
• A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.

  2005cites this paper
• SCN1A mutations and epilepsy

  2005cites this paper
• Ion channel defects in idiopathic epilepsies.

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

  2005cites this paper
• Clinical and genetic aspects of idiopathic epilepsies in childhood.

  2005cites this paper
• Mutaciones de los canales neuronales de sodio y cloro asociadas a epilepsia generalizada con convulsiones febriles plus

  2004influential citation
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  2004cites this paper
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  2004cites this paper
• Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

  2004cites this paper
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  2004cites this paper
• Monogenic idiopathic epilepsies.

  2004cites this paper
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  2004cites this paper