Associated Papers
Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.
Nagao C et al.
Biochemical Genetics, 2025
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.
Palma JA et al.
Neurology. Genetics, 2021
Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.
Baker MD et al.
Pflugers Archiv : European Journal of Physiology, 2020
Understanding the genetic basis of congenital insensitivity to pain.
Drissi I et al.
British Medical Bulletin, 2020
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.
Huang J et al.
Frontiers in Neuroscience, 2019
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.
Sambuughin N et al.
Case Reports in Genetics, 2018
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.
King MK et al.
Neurogenetics, 2017
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