Mutations in SCN3A cause early infantile epileptic encephalopathy
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Ethan M. Goldberg | Borut Peterlin | Livija Medne | Aleš Maver | Kimberly Wallis | Ingo Helbig | I. Helbig | L. Medne | B. Peterlin | A. Maver | K. Helbig | I. Božović | Katherine L Helbig | T. Zaman | Kimberly Wallis | S. Debrosse | Ethan M Goldberg | Tariq Zaman | Ivana Babić Božović | Suzanne D DeBrosse | A Christina Bergqvist | Xiaohong Zhang | A. Bergqvist | Xiaohong Zhang
[1] L. Lagae,et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders , 2017 .
[2] G. Carvill,et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome , 2017, Neurology.
[3] F. Bezanilla,et al. Domain IV voltage-sensor movement is both sufficient and rate limiting for fast inactivation in sodium channels , 2013, The Journal of general physiology.
[4] Lingjia Tang,et al. Alteration of Scn3a expression is mediated via CpG methylation and MBD2 in mouse hippocampus during postnatal development and seizure condition. , 2015, Biochimica et biophysica acta.
[5] B. Vazquez,et al. A Case of Extended Spectrum GEFS+ , 2005, Epilepsia.
[6] A. L. Goldin,et al. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities , 2001, Neuroscience.
[7] William A Catterall,et al. Voltage‐gated sodium channels at 60: structure, function and pathophysiology , 2012, The Journal of physiology.
[8] M. Gutnick,et al. Slow inactivation of Na+ current and slow cumulative spike adaptation in mouse and guinea‐pig neocortical neurones in slices. , 1996, The Journal of physiology.
[9] S. Dib-Hajj,et al. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons , 2010, Experimental Neurology.
[10] Z. Zong,et al. Voltage-gated sodium channel Nav1.1, Nav1.3 and β1 subunit were up-regulated in the hippocampus of spontaneously epileptic rat , 2008, Brain Research Bulletin.
[11] Jeffrey J. Clare,et al. The Sodium Channel β3-Subunit Induces Multiphasic Gating in NaV1.3 and Affects Fast Inactivation via Distinct Intracellular Regions , 2010, The Journal of Biological Chemistry.
[12] C. Stafstrom. Persistent Sodium Current and Its Role in Epilepsy , 2007, Epilepsy currents.
[13] W. Catterall,et al. From Ionic Currents to Molecular Mechanisms The Structure and Function of Voltage-Gated Sodium Channels , 2000, Neuron.
[14] B. Bean,et al. Subthreshold Sodium Currents and Pacemaking of Subthalamic Neurons Modulation by Slow Inactivation , 2003, Neuron.
[15] Yong-hui Jiang,et al. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing , 2017, Scientific Reports.
[16] A. George,et al. Novel SCN3A variants associated with focal epilepsy in children , 2014, Neurobiology of Disease.
[17] Rolf Schröder,et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families , 2016, European Journal of Human Genetics.
[18] L. Lagae,et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders , 2017, Brain : a journal of neurology.
[19] I. Lampl,et al. Reduction of cortical pyramidal neuron excitability by the action of phenytoin on persistent Na+ current. , 1998, The Journal of pharmacology and experimental therapeutics.
[20] Stephen G. Waxman,et al. Upregulation of persistent and ramp sodium current in dorsal horn neurons after spinal cord injury , 2006, Experimental Brain Research.
[21] E. Wirrell. Treatment of Dravet Syndrome , 2016, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[22] Massimo Mantegazza,et al. Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders , 2010, The Lancet Neurology.
[23] J. Hoeijmakers,et al. Efficacy, safety, and tolerability of lacosamide in patients with gain-of-function Nav1.7 mutation-related small fiber neuropathy: study protocol of a randomized controlled trial–the LENSS study , 2016, Trials.
[24] J. Noebels. Predicting the impact of sodium channel mutations in human brain disease , 2019, Epilepsia.
[25] H. Beck,et al. Activity of the anticonvulsant lacosamide in experimental and human epilepsy via selective effects on slow Na+ channel inactivation , 2017, Epilepsia.
[26] M Montal,et al. A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[27] S. Dib-Hajj,et al. Sodium channel α-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): Different expression patterns in developing rat nervous system , 1997 .
[28] B. Bean,et al. Lacosamide Inhibition of Nav1.7 Voltage-Gated Sodium Channels: Slow Binding to Fast-Inactivated States , 2017, Molecular Pharmacology.
[29] C. Walsh,et al. Somatic mutations in cerebral cortical malformations. , 2014, The New England journal of medicine.
[30] M. Meisler,et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy , 2008, Neuroscience Letters.
[31] E. Campbell,et al. Voltage Sensor of Kv1.2: Structural Basis of Electromechanical Coupling , 2005, Science.
[32] A. Alonso,et al. Biophysical Properties and Slow Voltage-Dependent Inactivation of a Sustained Sodium Current in Entorhinal Cortex Layer-II Principal Neurons , 1999, The Journal of general physiology.
[33] Mei-Mei Gao,et al. Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A , 2014, Molecular Neurobiology.
[34] S. Liang,et al. Synergetic Action of Domain II and IV Underlies Persistent Current Generation in Nav1.3 as revealed by a tarantula toxin , 2015, Scientific Reports.
[35] G. Stuart,et al. Voltage–activated sodium channels amplify inhibition in neocortical pyramidal neurons , 1999, Nature Neuroscience.
[36] Y. H. Chen,et al. Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum. , 2000, The Journal of comparative neurology.
[37] P. Striano,et al. Co‐occurring malformations of cortical development and SCN1A gene mutations , 2014, Epilepsia.
[38] Jianping Wu,et al. Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution , 2017, Science.
[39] T. Cummins,et al. Differential Block of Sensory Neuronal Voltage-Gated Sodium Channels by Lacosamide [(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide], Lidocaine, and Carbamazepine , 2008, Journal of Pharmacology and Experimental Therapeutics.
[40] A. Sayad,et al. Epilepsy Is Associated With Dysregulation of Long Non-coding RNAs in the Peripheral Blood , 2019, Front. Mol. Biosci..
[41] 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.
[42] G. Carvill,et al. The phenotypic spectrum of SCN8A encephalopathy , 2015, Neurology.
[43] W. Crill,et al. Persistent sodium current in mammalian central neurons. , 1996, Annual review of physiology.
[44] James O. Jackson,et al. Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. , 2010, The Journal of clinical investigation.
[45] S. Waxman,et al. Upregulation of Sodium Channel Nav1.3 and Functional Involvement in Neuronal Hyperexcitability Associated with Central Neuropathic Pain after Spinal Cord Injury , 2003, The Journal of Neuroscience.
[46] Jeffrey J. Clare,et al. Distribution of voltage‐gated sodium channel α‐subunit and β‐subunit mRNAs in human hippocampal formation, cortex, and cerebellum , 2000 .
[47] E. Wirrell,et al. Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. , 2017, Pediatric Neurology.
[48] Berten Ceulemans,et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy , 2003, Human mutation.
[49] A. George,et al. Single-channel Properties of Human NaV1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy , 2006, The Journal of general physiology.
[50] Stacey B. B. Dutton,et al. SCN3A deficiency associated with increased seizure susceptibility , 2017, Neurobiology of Disease.
[51] G Avanzini,et al. Layer-specific properties of the persistent sodium current in sensorimotor cortex. , 2006, Journal of neurophysiology.
[52] S. McMahon,et al. Nerve injury induces robust allodynia and ectopic discharges in Nav1.3 null mutant mice , 2006, Molecular pain.
[53] Anup D. Patel,et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects , 2017, Journal of Medical Genetics.
[54] Stephen G. Waxman,et al. International Union of Pharmacology. XXXIX. Compendium of Voltage-Gated Ion Channels: Sodium Channels , 2003, Pharmacological Reviews.
[55] A. L. Goldin. Mechanisms of sodium channel inactivation , 2003, Current Opinion in Neurobiology.
[56] D. Lindhout,et al. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach , 2015, Neurotherapeutics.
[57] M. Noda,et al. Differential regulation of three sodium channel messenger RNAs in the rat central nervous system during development. , 1989, The EMBO journal.
[58] W. Catterall,et al. Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome , 2013, Channels.
[59] K. Veeramah,et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. , 2012, American journal of human genetics.
[60] L. Isom,et al. Sodium channel β subunits: emerging targets in channelopathies. , 2015, Annual review of physiology.
[61] G. Avanzini,et al. Phenytoin Inhibits the Persistent Sodium Current in Neocortical Neurons by Modifying Its Inactivation Properties , 2013, PloS one.
[62] W. Wadman,et al. Carbamazepine and Topiramate Modulation of Transient and Persistent Sodium Currents Studied in HEK293 Cells Expressing the Nav1.3 α–Subunit , 2007, Epilepsia.