Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Archives of Neurology

• Publication date

  2005-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1001/ARCHNEUR.62.10.1587PMID 16216943
• 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.

• Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

  2004cited by this paper
• Electrophysiological Properties of Mutant Nav1.7 Sodium Channels in a Painful Inherited Neuropathy

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• Voltage-gated sodium channels and pain pathways.

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• A case of primary erythromelalgia improved by mexiletine

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• Traitement de l'érythermalgie familiale par l'association lidocaïne- mexilétine

  2003cited by this paper
• [Treatment of familial erythermalgia with the association of lidocaine and mexiletine].

  2003cited by this paper
• The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.

  2001cited by this paper
• Lidocaine and mexiletine therapy for erythromelalgia.

  1999cited by this paper
• Cutaneous pathology in primary erythermalgia.

  1996cited by this paper
• ERYTHROMELALGIA AND ERYTHERMALGIA: LUMPERS AND SPLITTERS

  1994cited by this paper
• ERYTHROMELALGIA AND ERYTHERMALGIA: DIAGNOSTIC DIFEERENTIATION

  1994cited by this paper
• Autosomal dominant erythromelalgia.

  1992cited by this paper
• Idiopathic erythermalgia: a congenital disorder.

  1989cited by this paper

• Voltage-gated sodium channels (NaV) in GtoPdb v.2025.3

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• Primary Erythromelalgia: Historical Perspective and Current Update

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• Intravenous immunoglobulin therapy in erythromelalgia management: a case report

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• Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.

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• Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

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• Gene variant effects across sodium channelopathies predict function and guide precision therapy

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• Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

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• Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia

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• Navβ4 regulates fast resurgent sodium currents and excitability in sensory neurons

  2015cites this paper
• Primary erythromelalgia: a review

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• Mutational Consequences of Aberrant Ion Channels in Neurological Disorders

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• Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.

  2014cites this paper
• Aspirin Resistant Autosomal Dominant Familial Erythermalgia: A Congenital Incurable Neuropathic Disorder Caused by a Gain of Function Mutation in Exon 26 of the SCN9a Gene on Chromosome 2q24.3

  2014cites this paper
• Small fiber neuropathy and sodium channels : a paradigm shift

  2014cites this paper
• Chapter 50 – Erythromelalgia

  2013cites this paper
• Neuropathische Schmerzen durch Nav1.7-Mutationen

  2013cites this paper
• Abnormal Pain Conditions in Humans Related to Genetic Mutations

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• Genes, molecules and patients—Emerging topics to guide clinical pain research

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• Casus 11 – Antwoord

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• Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

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• Nonspecific capillary proliferation and vasculopathy indicate skin hypoxia in erythromelalgia.

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• SCN9A: another sodium channel excited to play a role in human epilepsies

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• No mutations in the voltage‐gated NaV1.7 sodium channel α1 subunit gene SCN9A in familial complex regional pain syndrome

  2010cites this paper
• Pain as a channelopathy.

  2010cites this paper
• A new Nav1.7 sodium channel mutation I234T in a child with severe pain

  2010influential citation
• Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.

  2009cites this paper
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  2009cites this paper
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  2007cites this paper
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  2006cites this paper