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Epileptic Disorders, ISSN 1294-9361, 08/2018, Volume 20, Issue 4, pp. 232 - 238
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 2015, Volume 35, Issue 23, pp. 8866 - 8881
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 03/2018, Volume 56, pp. 88 - 91
Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy are thought to have a shared genetic etiology. has been identified as a causative gene of both disorders.... 
Genetic epilepsy with febrile seizure | CHRNA4 | Paroxysmal kinesigenic dyskinesia | FRONTAL-LOBE EPILEPSY | PRRT2 | GEFS PLUS | INFANTILE SEIZURES | MUTATIONS | SPECTRUM | NICOTINIC ACETYLCHOLINE-RECEPTORS | NEUROSCIENCES | CLINICAL NEUROLOGY | Yuan (China) | Medical research | Epilepsy | Genetic research | Medicine, Experimental | Febrile convulsions | Movement disorders
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 10/2011, Volume 34, Issue 8, pp. 1268 - 1275
Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures‐plus (GEFS+) and Dravet syndrome (DS) have been functionally... 
epilepsy | dravet syndrome | human | genetic epilepsy with febrile seizures‐plus | SCN1A | genetic epilepsy with febrile seizures-plus | NA(V)1.1 | NEUROSCIENCES | DE-NOVO MUTATIONS | SODIUM-CHANNEL SCN1A | MOUSE MODEL | SMEI | SEVERE MYOCLONIC EPILEPSY | GENERALIZED EPILEPSY | EXPRESSION | INFANCY | INTERNEURONS | GEFS | Dravet syndrome
Journal Article
Brain Research, ISSN 0006-8993, 12/2017, Volume 1677, p. 26
* The first case of epilepsy with two missense mutations in cis in the SCN1A gene is reported. * A novel mutation missense mutation is reported. * The... 
Genetic aspects | Seizures (Medicine) | Epilepsy | Genes | Medical research | Genetic research | Medicine, Experimental | Febrile convulsions | Glutamine
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2009, Volume 35, Issue 1, pp. 91 - 102
Abstract Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile... 
Neurology | SMEI | GEFS | Sodium channel | Mutation | Epilepsy | SCN1A | REDUCED SODIUM CURRENT | HIPPOCAMPAL-NEURONS | NEUROSCIENCES | MESSENGER-RNAS | ALPHA-1-SUBUNIT MUTATIONS | MISSENSE MUTATION | SEVERE MYOCLONIC EPILEPSY | CHANNEL ALPHA-SUBUNIT | RAT-BRAIN | INFANCY | Epilepsy, Generalized - genetics | Membrane Potentials - genetics | Chromosomes, Artificial, Bacterial - physiology | Epilepsy, Generalized - pathology | Epilepsy, Generalized - complications | RNA, Messenger - metabolism | Seizures, Febrile - pathology | Kainic Acid | Dose-Response Relationship, Drug | Arginine - genetics | Seizures, Febrile - genetics | Neurons - physiology | Tetrodotoxin - pharmacology | Disease Models, Animal | Animals, Newborn | Membrane Potentials - drug effects | Biophysical Phenomena | Mice, Inbred C57BL | Cells, Cultured | Histidine - genetics | Seizures, Febrile - chemically induced | Mice, Transgenic | Sodium Channel Blockers - pharmacology | Membrane Potentials - physiology | Mutation - genetics | Electroencephalography - methods | Nerve Tissue Proteins - genetics | NAV1.1 Voltage-Gated Sodium Channel | Patch-Clamp Techniques | Animals | Mice | Sodium Channels - genetics | Epilepsy, Generalized - chemically induced | Electromyography - methods | Seizures, Febrile - complications | Molecular genetics | Neurons | Analysis | Bipolar disorder | Genetic aspects | Febrile convulsions | Index Medicus | epilepsy | mutation
Journal Article
Journal Article
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