CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

Akiyama, 2010, A long-term follow-up study of Dravet syndrome up to adulthood, Epilepsia, 51, 1043, 10.1111/j.1528-1167.2009.02466.x Catterall, 2008, Calcium channel regulation and presynaptic plasticity, Neuron, 59, 882, 10.1016/j.neuron.2008.09.005 Claes, 2001, De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy, Am. J. Hum. Genet., 68, 1327, 10.1086/320609 DeMaria, 2001, Calmodulin bifurcates the local Ca2+ signal that modulates P/Q-type Ca2+ channels, Nature, 411, 484, 10.1038/35078091 Depienne, 2009, Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients, J. Med. Genet., 46, 183, 10.1136/jmg.2008.062323 Dolphin, 2003, Beta subunits of voltage-gated calcium channels, J. Bioenerg. Biomembr., 35, 599, 10.1023/B:JOBB.0000008026.37790.5a Dravet, 2005, Severe Myoclonic Epilepsy in Infants, P89 Ducros, 2001, The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel, N. Engl. J. Med., 345, 17, 10.1056/NEJM200107053450103 Glasscock, 2007, Masking epilepsy by combining two epilepsy genes, Nat. Neurosci., 10, 1554, 10.1038/nn1999 Guerrini, 2010, Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene, Epilepsia, 51, 2474, 10.1111/j.1528-1167.2010.02790.x Guida, 2001, Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2, Am. J. Hum. Genet., 68, 759, 10.1086/318804 Hattori, 2008, A screening test for the prediction of Dravet syndrome before one year of age, Epilepsia, 49, 626, 10.1111/j.1528-1167.2007.01475.x Herlitze, 1996, Modulation of Ca2+ channels by G-protein beta gamma subunits, Nature, 380, 258, 10.1038/380258a0 Jouvenceau, 2001, Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel, Lancet, 358, 801, 10.1016/S0140-6736(01)05971-2 Kearney, 2006, Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2, Hum. Mol. Genet., 15, 1043, 10.1093/hmg/ddl019 Kim, 1997, Ca2+−dependent and -independent interactions of the isoforms of the alpha1A subunit of brain Ca2+ channels with presynaptic SNARE proteins, Proc. Natl. Acad. Sci. U. S. A., 94, 14782, 10.1073/pnas.94.26.14782 Lee, 1999, Ca2+/calmodulin binds to and modulates P/Q-type calcium channels, Nature, 399, 155, 10.1038/20194 Martin, 2007, The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy, Hum. Mol. Genet., 16, 2892, 10.1093/hmg/ddm248 Ogiwara, 2007, Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation, J. Neurosci., 27, 5903, 10.1523/JNEUROSCI.5270-06.2007 Ohmori, 2002, Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy, Biochem. Biophys. Res. Commun., 295, 17, 10.1016/S0006-291X(02)00617-4 Ohmori, 2008, A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy, Neurobiol. Dis., 32, 349, 10.1016/j.nbd.2008.07.017 Ophoff, 1996, Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4, Cell, 87, 543, 10.1016/S0092-8674(00)81373-2 Pietrobon, 2010, CaV2.1 channelopathies, Pflugers Arch., 460, 375, 10.1007/s00424-010-0802-8 Pragnell, 1994, Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit, Nature, 368, 67, 10.1038/368067a0 Rajakulendran, 2010, Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy, J. Physiol., 588, 1905, 10.1113/jphysiol.2009.186437 Ramocki, 2008, Failure of neuronal homeostasis results in common neuropsychiatric phenotypes, Nature, 455, 912, 10.1038/nature07457 Rettig, 1996, Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25, Proc. Natl. Acad. Sci. U. S. A., 93, 7363, 10.1073/pnas.93.14.7363 Rhodes, 2004, Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy, Proc. Natl. Acad. Sci. U. S. A., 101, 11147, 10.1073/pnas.0402482101 Singh, 2009, A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome, PLoS Genet., 5, e1000649, 10.1371/journal.pgen.1000649 Suls, 2010, Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene, Neurology, 75, 72, 10.1212/WNL.0b013e3181e62088 Walker, 1998, A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit, J. Biol. Chem., 273, 2361, 10.1074/jbc.273.4.2361 Yu, 2006, Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy, Nat. Neurosci., 9, 1142, 10.1038/nn1754 Zamponi, 2010, Role of voltage-gated calcium channels in epilepsy, Pflugers Arch., 460, 395, 10.1007/s00424-009-0772-x Zhuchenko, 1997, Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel, Nat. Genet., 15, 62, 10.1038/ng0197-62