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Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
- Published in:
- 2019
- By:
- Publication type:
- Letter
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Glyoxalase 1 and its substrate methylglyoxal are novel regulators of seizure susceptibility.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 4, p. 649, doi. 10.1111/epi.12121
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- Publication type:
- Article
Altered sleep regulation in a mouse model of SCN1A -derived genetic epilepsy with febrile seizures plus ( GEFS+).
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 4, p. 625, doi. 10.1111/epi.12060
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- Publication type:
- Article
Protective effect of the ketogenic diet in Scn1a mutant mice.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 11, p. 2050, doi. 10.1111/j.1528-1167.2011.03211.x
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- Publication type:
- Article
Sodium channel SCN1A and epilepsy: Mutations and mechanisms.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1650, doi. 10.1111/j.1528-1167.2010.02640.x
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- Publication type:
- Article
Genetic influences on ketogenic diet efficacy.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, p. 67, doi. 10.1111/j.1528-1167.2008.01839.x
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- Publication type:
- Article
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6308283
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- Publication type:
- Article
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 343, doi. 10.1038/74159
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- Publication type:
- Article
Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Na<sub>v</sub>1.6 sodium channels.
- Published in:
- Genes, Brain & Behavior, 2020, v. 19, n. 4, p. 1, doi. 10.1111/gbb.12612
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- Publication type:
- Article
Cannabidiol Increases Seizure Resistance and Improves Behavior in an Scn8a Mouse Model.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.815950
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- Publication type:
- Article
Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.748415
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- Publication type:
- Article
An Epilepsy Mutation in the Sodium Channel SCN1A That Decreases Channel Excitability.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 10, p. 2714, doi. 10.1523/JNEUROSCI.2977-05.2006
- By:
- Publication type:
- Article
The GluN2A Subunit of the NMDA Receptor Modulates the Rate of Functional Maturation in Parvalbumin‐positive Interneurons.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R6059
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- Publication type:
- Article
Reduced cannabinoid 2 receptor activity increases susceptibility to induced seizures in mice.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 12, p. 2359, doi. 10.1111/epi.16388
- By:
- Publication type:
- Article
SLC6A1 variants identified in epilepsy patients reduce γ‐aminobutyric acid transport.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 9, p. e135, doi. 10.1111/epi.14531
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- Publication type:
- Article
Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1566, doi. 10.1002/acn3.50848
- By:
- Publication type:
- Article
Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice.
- Published in:
- Frontiers in Pharmacology, 2016, v. 7, p. 1, doi. 10.3389/fphar.2016.00357
- By:
- Publication type:
- Article
Transcriptomic and epigenomic dynamics associated with development of human iPSC-derived GABAergic interneurons.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2579, doi. 10.1093/hmg/ddaa150
- By:
- Publication type:
- Article
The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 19, p. 3663, doi. 10.1093/hmg/ddx248
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- Publication type:
- Article
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
- Published in:
- Cerebral Cortex, 2023, v. 33, n. 12, p. 7454, doi. 10.1093/cercor/bhad051
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- Publication type:
- Article
Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice.
- Published in:
- Psychopharmacology, 2013, v. 228, n. 2, p. 263, doi. 10.1007/s00213-013-3034-8
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- Publication type:
- Article
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1633, doi. 10.1093/hmg/ddp081
- By:
- Publication type:
- Article
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2892, doi. 10.1093/hmg/ddm248
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- Publication type:
- Article
From DREADD to Treatment in Temporal Lobe Epilepsy.
- Published in:
- Epilepsy Currents, 2019, v. 19, n. 1, p. 47, doi. 10.1177/1535759718822035
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- Publication type:
- Article
Turning Up the Heat on Endocannabinoid Signaling.
- Published in:
- Epilepsy Currents, 2016, v. 16, n. 6, p. 414, doi. 10.5698/1535-7511-16.6.414
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- Publication type:
- Article
Fgf13 Identified as a Novel Cause of GEFS+.
- Published in:
- Epilepsy Currents, 2016, v. 16, n. 2, p. 112, doi. 10.5698/1535-7511-16.2.112
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- Publication type:
- Article
Illuminating the Cerebellum as a Potential Target for Treating Epilepsy.
- Published in:
- Epilepsy Currents, 2015, v. 15, n. 5, p. 277, doi. 10.5698/1535-7511-15.5.277
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- Publication type:
- Article
Complex Genetic Interactions in a Mouse Model of Absence Epilepsy.
- Published in:
- Epilepsy Currents, 2015, v. 15, n. 1, p. 50, doi. 10.5698/1535-7597-15.1.50
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- Publication type:
- Article
Toward Routine Genetics-Based Diagnoses for the Epileptic Encephalopathies.
- Published in:
- Epilepsy Currents, 2014, v. 14, n. 3, p. 158, doi. 10.5698/1535-7597-14.3.158
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- Publication type:
- Article
Generation and initial characterization of mice lacking full‐length BAI3 (ADGRB3) expression.
- Published in:
- Basic & Clinical Pharmacology & Toxicology, 2023, v. 133, n. 4, p. 353, doi. 10.1111/bcpt.13917
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- Publication type:
- Article
Carvedilol increases seizure resistance in a mouse model of SCN8A-derived epilepsy.
- Published in:
- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1397225
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- Publication type:
- Article
Dystonia associated with mutation of the neuronal sodium channel and identification of the modifier Scnm1 locus on mouse chromosome 3.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 3, p. 471, doi. 10.1093/hmg/8.3.471
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- Publication type:
- Article
Migrainous Vertigo: Mutation Analysis of the Candidate Genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
- Published in:
- Headache: The Journal of Head & Face Pain, 2006, v. 46, n. 7, p. 1136, doi. 10.1111/j.1526-4610.2006.00504.x
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- Publication type:
- Article
Impaired Action Potential Initiation in GAB Aergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human Na<sub>V</sub>1.1 Mutation.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 45, p. 14874, doi. 10.1523/JNEUROSCI.0721-14.2014
- By:
- Publication type:
- Article