Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia

Nav1.7-related small fiber neuropathy: Impaired slow-inactivation and DRG neuron hyperexcitability

(2012) C. Han et al.   NEUROLOGY

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain

(2012) Juan D. Ramirez et al.   PAIN

Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling

(2012) Andrew R. Segerdahl et al.   PAIN

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

(2011) Catharina G. Faber et al.   ANNALS OF NEUROLOGY

NaChBac: The Long Lost Sodium Channel Ancestor

(2011) Kalypso Charalambous et al.   BIOCHEMISTRY

Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7

(2011) Mark Estación et al.   Molecular Pain

Two NovelSCN9AGene Heterozygous Mutations May Cause Partial Deletion of Pain Perception

(2011) Ruimei Yuan et al.   PAIN MEDICINE

Sodium Channels in Normal and Pathological Pain

(2010) Sulayman D. Dib-Hajj et al.   Annual Review of Neuroscience

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

(2010) Jin-Sung Choi et al.   BRAIN

Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain

(2010) Roland Staudl et al.   EUROPEAN JOURNAL OF PAIN

Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation

(2010) M. Estacion et al.   JOURNAL OF PHYSIOLOGY-LONDON

Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene

(2010) Ron Dabby et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations at opposite Ends of the DIII/S4-S5 Linker of Sodium Channel NaV1.7 Produce Distinct Pain Disorders

(2010) Xiaoyang Cheng et al.   Molecular Pain

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons

(2010) Jin-Sung Choi et al.   Nature Reviews Neurology

Sodium channelopathies and pain

(2010) Angelika Lampert et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Familial pain syndromes from mutations of the Nav1.7 sodium channel

(2009) Tanya Z. Fischer et al.   Annals of the New York Academy of Sciences

Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation

(2009) Chongyang Han et al.   BRAIN

Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off

(2009) Jin-Sung Choi et al.   EXPERIMENTAL NEUROLOGY

Voltage-clamp and current-clamp recordings from mammalian DRG neurons

(2009) Theodore R Cummins et al.   Nature Protocols

Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy

(2009) Kristin Ørstavik et al.   NEUROSCIENCE LETTERS

Studies of α-Helicity and Intersegmental Interactions in Voltage-Gated Na+ Channels: S2D4

(2009) Zhongming Ma et al.   PLoS One

NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders

(2008) M. Estacion et al.   JOURNAL OF NEUROSCIENCE

Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation

(2008) Brian W. Jarecki et al.   JOURNAL OF PHYSIOLOGY-LONDON

Paroxysmal Extreme Pain Disorder M1627K Mutation in Human Nav1.7 Renders DRG Neurons Hyperexcitable

(2008) Sulayman D Dib-Hajj et al.   Molecular Pain

Mutation I136V Alters Electrophysiological Properties of the NaV1.7 Channel in a Family with Onset of Erythromelalgia in the Second Decade

(2008) Xiaoyang Cheng et al.   Molecular Pain