A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy
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K. Tomizawa | Y. Mori | H. Matsui | T. Nishiki | I. Ohmori | M. Ouchida | T. Miki | N. Mimaki | Shigeki Kiyonaka
[1] J. Hattori,et al. A Screening test for the prediction of Dravet syndrome before one year of age , 2008, Epilepsia.
[2] Katsuhiro Kobayashi,et al. Rasmussen encephalitis associated with SCN1A mutation , 2008, Epilepsia.
[3] Hiroyuki Miyamoto,et al. Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation , 2007, The Journal of Neuroscience.
[4] I. Scheffer,et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. , 2007, Brain : a journal of neurology.
[5] A. George,et al. Nonfunctional SCN1A Is Common in Severe Myoclonic Epilepsy of Infancy , 2006, Epilepsia.
[6] Massimo Mantegazza,et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy , 2006, Nature Neuroscience.
[7] Frances M. Ashcroft,et al. From molecule to malady , 2006, Nature.
[8] K. Yamakawa,et al. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures , 2005, The Journal of physiology.
[9] Carlos G Vanoye,et al. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[10] A. George. Molecular basis of inherited epilepsy. , 2004, Archives of neurology.
[11] A. George,et al. Inherited Channelopathies Associated with Epilepsy , 2004, Epilepsy currents.
[12] O. Devinsky,et al. Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A , 2003, The Journal of Neuroscience.
[13] Annette C. Dolphin,et al. β Subunits of Voltage-Gated Calcium Channels , 2003, Journal of bioenergetics and biomembranes.
[14] K. Campbell,et al. Auxiliary subunits: essential components of the voltage-gated calcium channel complex , 2003, Current Opinion in Neurobiology.
[15] K. Yamakawa,et al. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents , 2003, Epilepsy Research.
[16] E. Oka,et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. , 2002, Biochemical and biophysical research communications.
[17] K Fukushima,et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy , 2002, Neurology.
[18] A. L. Goldin,et al. Functional Effects of Two Voltage-Gated Sodium Channel Mutations That Cause Generalized Epilepsy with Febrile Seizures Plus Type 2 , 2001, The Journal of Neuroscience.
[19] Michael G Hanna,et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel , 2001, The Lancet.
[20] F Andermann,et al. Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+? , 2001, Epilepsia.
[21] L. Lagae,et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. , 2001, American journal of human genetics.
[22] R. Guerrini,et al. Genetic Predisposition to Severe Myoclonic Epilepsy in Infancy , 2001, Epilepsia.
[23] R. Guerrini,et al. Genetic Predisposition to Severe Myoclonic Epilepsy in Infancy , 2001 .
[24] T. Mayer,et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. , 2000, American journal of human genetics.
[25] B Sakmann,et al. Calcium Channel Types with Distinct Presynaptic Localization Couple Differentially to Transmitter Release in Single Calyx-Type Synapses , 1999, The Journal of Neuroscience.
[26] Kazuto Yamazaki,et al. Single Tottering Mutations Responsible for the Neuropathic Phenotype of the P-type Calcium Channel* , 1998, The Journal of Biological Chemistry.
[27] Denise S Walker,et al. A β4 Isoform-specific Interaction Site in the Carboxyl-terminal Region of the Voltage-dependent Ca2+ Channel α1A Subunit* , 1998, The Journal of Biological Chemistry.
[28] J. Hell,et al. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels , 1995, The Journal of neuroscience : the official journal of the Society for Neuroscience.
[29] Y. Mori,et al. Stable expression of the neuronal BI (class A) calcium channel in baby hamster kidney cells. , 1994, Biochemical and biophysical research communications.
[30] K. Campbell,et al. Calcium channel β-subunit binds to a conserved motif in the I–II cytoplasmic linker of the α1-subunit , 1994, Nature.
[31] Wade G. Regehr,et al. Participation of multiple calcium channel types in transmission at single climbing fiber to Purkinje cell synapses , 1994, Neuron.
[32] A. Momiyama,et al. Different types of calcium channels mediate central synaptic transmission , 1993, Nature.
[33] W. Catterall. Structure and regulation of voltage-gated Ca2+ channels. , 2000, Annual review of cell and developmental biology.
[34] C. Dravet. Severe myoclonic epilepsy in infants , 1992 .