SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

Life Sciences, Neurobiology, Neuroscience +11

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Caroline Fertleman, Mark D. Baker, Keith A. Parker et al. · Neuron · 2006 · 755 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

Juan José Toledo‐Aral, Brenda L. Moss, Zhi-Jun He et al. · Proceedings of the National Academy of Sciences · 1997 · 521 citations

Life Sciences, Neurobiology, Neuroscience +17

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

Anthony M. Rush, Sulayman D. Dib‐Hajj, Shujun Liu et al. · Proceedings of the National Academy of Sciences · 2006 · 410 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Structure of the Nav1.4-β1 Complex from Electric Eel

Yan Zhen, Qiang Zhou, Lin Wang et al. · Cell · 2017 · 338 citations · Full text

Natural Sciences, Biology, Biophysics +14