CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
暂无分享,去创建一个
Katsuhiro Kobayashi | H. Matsui | T. Nishiki | I. Ohmori | Y. Ohtsuka | M. Ouchida | H. Michiue | Y. Jitsumori | Akiko Mori | A. Mori
[1] R. Guerrini,et al. Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene , 2010, Epilepsia.
[2] A. Suls,et al. Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene , 2010, Neurology.
[3] P. Lory,et al. Role of voltage-gated calcium channels in epilepsy , 2010, Pflügers Archiv - European Journal of Physiology.
[4] D. Kullmann,et al. Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy , 2010, The Journal of physiology.
[5] D. Pietrobon,et al. CaV2.1 channelopathies , 2010, Pflügers Archiv - European Journal of Physiology.
[6] Katsuhiro Kobayashi,et al. A long‐term follow‐up study of Dravet syndrome up to adulthood , 2009, Epilepsia.
[7] M. Leppert,et al. A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome , 2009, PLoS genetics.
[8] K. Tomizawa,et al. A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy , 2008, Neurobiology of Disease.
[9] C. Depienne,et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients , 2008, Journal of Medical Genetics.
[10] H. Zoghbi,et al. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes , 2008, Nature.
[11] W. Catterall,et al. Calcium Channel Regulation and Presynaptic Plasticity , 2008, Neuron.
[12] J. Hattori,et al. A Screening test for the prediction of Dravet syndrome before one year of age , 2008, Epilepsia.
[13] Jing Qian,et al. Masking epilepsy by combining two epilepsy genes , 2007, Nature Neuroscience.
[14] Melinda S. Martin,et al. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. , 2007, Human molecular genetics.
[15] 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.
[16] Massimo Mantegazza,et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy , 2006, Nature Neuroscience.
[17] W. Frankel,et al. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. , 2006, Human molecular genetics.
[18] 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.
[19] Annette C. Dolphin,et al. β Subunits of Voltage-Gated Calcium Channels , 2003, Journal of bioenergetics and biomembranes.
[20] E. Oka,et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. , 2002, Biochemical and biophysical research communications.
[21] Michael G Hanna,et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel , 2001, The Lancet.
[22] E. Vicaut,et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. , 2001, The New England journal of medicine.
[23] 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.
[24] D. T. Yue,et al. Calmodulin bifurcates the local Ca2+ signal that modulates P/Q-type Ca2+ channels , 2001, Nature.
[25] C Jodice,et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. , 2001, American journal of human genetics.
[26] Scott T. Wong,et al. Ca2+/calmodulin binds to and modulates P/Q-type calcium channels , 1999, Nature.
[27] W. Catterall,et al. Ca2+-dependent and -independent interactions of the isoforms of the alpha1A subunit of brain Ca2+ channels with presynaptic SNARE proteins. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[28] Dennis E Bulman,et al. Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 , 1996, Cell.
[29] W. Catterall,et al. Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[30] K. Mackie,et al. Modulation of Ca2+ channels βγ G-protein py subunits , 1996, Nature.
[31] Judit K. Makara,et al. Selective inhibition of 2-AG hydrolysis enhances endocannabinoid signaling in hippocampus , 2007, Nature Neuroscience.
[32] William B. Dobyns,et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel , 1997, Nature Genetics.
[33] K. Mackie,et al. Modulation of Ca2+ channels by G-protein beta gamma subunits. , 1996, Nature.
[34] K. Campbell,et al. Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit. , 1994, Nature.
[35] C. Dravet. Severe myoclonic epilepsy in infants , 1992 .
[36] Scott T. Wong,et al. Ca 2 + / calmodulin binds to andmodulates P / Q-typecalciumchannels , 2022 .