CA2+ CHANNELOPATHIES OF THE NERVOUS SYSTEM: FUNCTIONAL CONSEQUENCES OF MUTATIONS IN HUMAN P/Q-TYPE CALCIUM CHANNELS AND MECHANISM OF DISEASE

Scientific Publications

• 2001 AMERICAN JOURNAL OF HUMAN GENETICS

  Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

• 2002 MOLECULAR NEUROBIOLOGY

  Calcium channels and channelopathies of the central nervous system

• 2002 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  Familial hemiplegic migraine mutations increase Ca2+ influx through single human Ca(V)2.1 channels and decrease maximal Ca(V)2.1 current density in neurons

• 2004 JOURNAL OF GENERAL PHYSIOLOGY

  Modal gating of human Ca(v)2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits

• 2006 NEUROSCIENCE

  Pain sensitivity in mice lacking the Ca(v)2.1 alpha(1) subunit of P/Q-type Ca2+ channels

• 2004 JOURNAL OF GENERAL PHYSIOLOGY

  Modal gating of human Ca(v)2.1 (P/Q-type) calcium channels: II. The b mode and reversible uncoupling of inactivation

• 2004 NEURON

  A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

• 2005 NEUROSCIENTIST

  Migraine: New molecular mechanisms

• 2001 FASEB JOURNAL

  Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

• 2005 CURRENT OPINION IN NEUROBIOLOGY

  Function and dysfunction of synaptic calcium channels: insights from mouse models

• 2005 JOURNAL OF BIOLOGICAL CHEMISTRY

  Specific kinetic alterations of human Ca(V)2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma

• 2003 NATURE REVIEWS NEUROSCIENCE

  Neurobiology of migraine