Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models

Biophysics Reviews
Osvaldo D UchitelMariano N Di Guilmi

Abstract

One of the outstanding developments in clinical neurology has been the identification of ion channel mutations as the origin of a wide variety of inherited disorders like migraine, epilepsy, and ataxia. The study of several channelopathies has provided crucial insights into the molecular mechanisms, pathogenesis, and therapeutic approaches to complex neurological diseases. This review addresses the mutations underlying familial hemiplegic migraine (FHM) with particular interest in Cav2.1 (i.e., P/Q-type) voltage-activated Ca(2+) channel FHM type-1 mutations (FHM1). Transgenic mice harboring the human pathogenic FHM1 mutation R192Q or S218L (KI) have been used as models to study neurotransmission at several central and peripheral synapses. FHM1 KI mice are a powerful tool to explore presynaptic regulation associated with expression of Cav2.1 channels. FHM1 Cav2.1 channels activate at more hyperpolarizing potentials and show an increased open probability. These biophysical alterations may lead to a gain-of-function on synaptic transmission depending upon factors such as action potential waveform and/or Cav2.1 splice variants and auxiliary subunits. Analysis of FHM knock-in mouse models has demonstrated a deficient regulation of t...Continue Reading

References

Nov 1, 1967·The Journal of Physiology·F A Dodge, R Rahamimoff
Dec 28, 1995·Brain Research. Molecular Brain Research·S G VolsenA Gillespie
Apr 16, 1998·The Journal of Biological Chemistry·R L KrausJ Striessnig
May 19, 1998·Trends in Pharmacological Sciences·J StriessnigH Glossmann
Oct 14, 1998·The Journal of Physiology·M F CuttleT Takahashi
Apr 1, 1999·Annual Review of Physiology·B L Sabatini, W G Regehr
Apr 23, 1999·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·J G Borst, B Sakmann
Mar 29, 2000·The Journal of Biological Chemistry·R L KrausJ Striessnig
Aug 11, 2000·Science·J H BollmannJ G Borst
Oct 14, 2000·Annual Review of Cell and Developmental Biology·W A Catterall
Apr 5, 2001·Proceedings of the National Academy of Sciences of the United States of America·N HadjikhaniM A Moskowitz
Jul 7, 2001·The New England Journal of Medicine·A DucrosE Tournier-Lasserve
Jan 25, 2002·The New England Journal of Medicine·Peter J GoadsbyMichel D Ferrari
Feb 1, 2002·Nature Medicine·Hayrunnisa BolayMichael A Moskowitz
Feb 5, 2002·Annual Review of Physiology·Robert S Zucker, Wade G Regehr
May 23, 2002·Brain : a Journal of Neurology·L L ThomsenM B Russell
Jun 5, 2002·Current Opinion in Neurology·Esther E KorsMichel D Ferrari
Sep 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Angelita TotteneDaniela Pietrobon
Dec 31, 2002·Physiological Reviews·Edward Perez-Reyes
Feb 26, 2003·Annals of Neurology·Roberto MarconiGiorgio Casari
Mar 8, 2003·Proceedings of the National Academy of Sciences of the United States of America·Francisco J UrbanoRichard W Tsien
May 3, 2003·Nature Reviews. Neuroscience·Daniela Pietrobon, Jörg Striessnig
Feb 3, 2004·Annals of Neurology·Michael A MoskowitzTurgay Dalkara

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Citations

Feb 17, 2018·Frontiers in Neurology·Olga CozzolinoFilippo M Santorelli

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