Mark Estacion

Summary

Affiliation: Yale University
Country: USA

Publications

  1. doi request reprint A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Exp Neurol 224:362-8. 2010
  2. doi request reprint Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons
    Hye Sook Ahn
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510 8018, USA
    Brain Res 1529:165-77. 2013
  3. doi request reprint A sodium channel gene SCN9A polymorphism that increases nociceptor excitability
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven CT
    Ann Neurol 66:862-6. 2009
  4. pmc Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable
    Sulayman D Dib-Hajj
    Deptartment of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 4:37. 2008
  5. doi request reprint Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy
    Jianying Huang
    1 Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, and Centre for Neuroscience and Regeneration Research, Veterans Affairs Medical Centre, West Haven, CT 06516, USA
    Brain 137:1627-42. 2014
  6. pmc Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel
    Yang Yang
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Nat Commun 3:1186. 2012
  7. pmc Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 7:92. 2011
  8. pmc Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate
    Yang Yang
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Biol Chem 288:13741-7. 2013
  9. pmc A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
    Tanya Z Fischer
    Department of Neurology, Yale University School of Medicine, New Haven, CT 16510, USA
    Ann Neurol 65:733-41. 2009
  10. doi request reprint A new Nav1.7 mutation in an erythromelalgia patient
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Biochem Biophys Res Commun 432:99-104. 2013

Collaborators

Detail Information

Publications16

  1. doi request reprint A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Exp Neurol 224:362-8. 2010
    ..Our data provide a pathophysiological basis for the pathogenicity of the first epilepsy-linked mutation within Na(V)1.3 channels and hippocampal neurons...
  2. doi request reprint Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons
    Hye Sook Ahn
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510 8018, USA
    Brain Res 1529:165-77. 2013
    ..7 associated with painful neuropathy depolarizes resting membrane potential and produces an enhanced inward current during interspike intervals, thereby contributing to DRG neuron hyperexcitability. ..
  3. doi request reprint A sodium channel gene SCN9A polymorphism that increases nociceptor excitability
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven CT
    Ann Neurol 66:862-6. 2009
    ..Our results suggest that polymorphisms in the Na(V)1.7 channel may influence susceptibility to pain...
  4. pmc Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable
    Sulayman D Dib-Hajj
    Deptartment of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 4:37. 2008
    ..Carbamazepine has been effective in relieving symptoms, while other drugs including other anti-epileptics are less effective...
  5. doi request reprint Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy
    Jianying Huang
    1 Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, and Centre for Neuroscience and Regeneration Research, Veterans Affairs Medical Centre, West Haven, CT 06516, USA
    Brain 137:1627-42. 2014
    ..9 in individuals with painful peripheral neuropathy. These genetic and functional observations identify missense mutations of Nav1.9 as a cause of painful peripheral neuropathy. ..
  6. pmc Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel
    Yang Yang
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Nat Commun 3:1186. 2012
    ..We suggest that this approach might identify variants that confer enhanced pharmacoresponsiveness on a variety of channels...
  7. pmc Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 7:92. 2011
    ..In this paper we describe three patients who house the NaV1.7/I228M variant...
  8. pmc Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate
    Yang Yang
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Biol Chem 288:13741-7. 2013
    ..In-frame deletion mutation (Del-L955) in NaV1.7 sodium channel from a kindred with erythromelalgia hyperpolarizes activation...
  9. pmc A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
    Tanya Z Fischer
    Department of Neurology, Yale University School of Medicine, New Haven, CT 16510, USA
    Ann Neurol 65:733-41. 2009
    ..Inherited erythromelalgia (IEM) has been linked to gain-of-function mutations of Na(v)1.7. We now report a novel mutation (V400M) in a three-generation Canadian family in which pain is relieved by carbamazepine (CBZ)...
  10. doi request reprint A new Nav1.7 mutation in an erythromelalgia patient
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Biochem Biophys Res Commun 432:99-104. 2013
    ..9 mV), which is predicted to attenuate the effect of this mutation on DRG neuron firing. These changes are consistent with previously characterized Erytheromelalgia associated mutations of Nav1.7...
  11. pmc Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 6:35. 2010
    ..7 and on DRG neuron excitability have not been investigated. We used voltage- and current-clamp recordings to evaluate the hypothesis that ranolazine may be effective in regulating Nav1.7-induced DRG neuron hyperexcitability...
  12. doi request reprint Sodium channels contribute to degeneration of dorsal root ganglion neurites induced by mitochondrial dysfunction in an in vitro model of axonal injury
    Anna Karin Persson
    Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, Connecticut 06510 and Rehabilitation Research Center, VA Connecticut Healthcare System, West Haven, Connecticut 06516
    J Neurosci 33:19250-61. 2013
    ....
  13. doi request reprint Contribution of sodium channels to lamellipodial protrusion and Rac1 and ERK1/2 activation in ATP-stimulated microglia
    Anna Karin Persson
    Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, Connecticut Rehabilitation Research Center, VA Connecticut Healthcare System, West Haven, Connecticut
    Glia 62:2080-95. 2014
    ..Our results provide evidence for a direct link between sodium channel activity and modulation of Rac1 and ERK1/2 activation in ATP-stimulated microglia, possibly by regulating Ca(2+) transients...
  14. doi request reprint The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms
    Mark Estacion
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, USA
    J Neurophysiol 109:306-14. 2013
    ....
  15. pmc A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
    Mark Estacion
    The Center for Neuroscience and Regeneration Research, Yale School of Medicine, New Haven, CT 06520, USA The Rehabilitation Research Center, VA Connecticut Healthcare System, West Haven, CT 06516, USA
    Neurobiol Dis 69:117-23. 2014
    ..6 supports the inclusion of SCN8A as a causative gene in infantile epilepsy, demonstrates a novel mechanism for hyperactivity of Nav1.6, and further expands the role of de novo mutations in severe epilepsy. ..
  16. pmc Nav1.9, G-proteins, and nociceptors
    Stephen G Waxman
    Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA
    J Physiol 586:917-8. 2008