Found: 24
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Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Seizures Cause Prolonged Impairment of Ventilation, CO<sub>2</sub> Chemoreception and Thermoregulation.
- Published in:
- Journal of Neuroscience, 2023, v. 43, n. 27, p. 4959, doi. 10.1523/JNEUROSCI.0450-23.2023
- By:
- Publication type:
- Article
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 12, p. 2847, doi. 10.1111/epi.16741
- By:
- Publication type:
- Article
Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 11, p. 2277, doi. 10.1111/epi.16371
- By:
- Publication type:
- Article
The novel sodium channel modulator GS‐458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1166, doi. 10.1111/epi.14196
- By:
- Publication type:
- Article
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 9, p. 1458, doi. 10.1111/epi.13461
- By:
- Publication type:
- Article
SCN8A encephalopathy: Research progress and prospects.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 7, p. 1027, doi. 10.1111/epi.13422
- By:
- Publication type:
- Article
Postictal Death Is Associated with Tonic Phase Apnea in a Mouse Model of Sudden Unexpected Death in Epilepsy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Rapid, efficient and precise allele replacement in the fission yeast Schizosaccharomyces pombe.
- Published in:
- Current Genetics, 2014, v. 60, n. 2, p. 109, doi. 10.1007/s00294-013-0406-x
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- Publication type:
- Article
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 506, doi. 10.1093/hmg/ddu470
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- Publication type:
- Article
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice.
- Published in:
- Journal of Physiology, 2013, v. 591, n. 1, p. 241, doi. 10.1113/jphysiol.2012.240168
- By:
- Publication type:
- Article
The MAP1B Binding Domain of Na<sub>v</sub>.6 Is Required for Stable Expression at the Axon Initial Segment.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 22, p. 4238, doi. 10.1523/JNEUROSCI.2771-18.2019
- By:
- Publication type:
- Article
CELF4 Regulates Translation and Local Abundance of a Vast Set of mRNAs, Including Genes Associated with Regulation of Synaptic Function.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003067
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- Publication type:
- Article
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632
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- Publication type:
- Article
Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 965, doi. 10.1002/humu.23547
- By:
- Publication type:
- Article
Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy.
- Published in:
- Frontiers in Neurology, 2015, v. 6, p. 1, doi. 10.3389/fneur.2015.00104
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- Publication type:
- Article
Neurons Are GIRKed in GNB1 Encephalopathy: Unraveling Pathogenic Mechanisms in a Complex Neurodevelopmental Disorder.
- Published in:
- Epilepsy Currents, 2023, v. 23, n. 6, p. 381, doi. 10.1177/15357597231202859
- By:
- Publication type:
- Article
Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy.
- Published in:
- Epilepsy Currents, 2023, v. 23, n. 2, p. 118, doi. 10.1177/15357597221147354
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- Publication type:
- Article
Yo GABA GABA! Convergent Mechanisms Driven by Gain-of-Function GABRD and Loss-of-Function SLC6A1 Variants Implicate Elevated GABAergic Tone in Generalized Epilepsies.
- Published in:
- Epilepsy Currents, 2022, v. 22, n. 3, p. 192, doi. 10.1177/15357597221094939
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- Publication type:
- Article
Back to Basics: A Role for Astrocyte Alkalization in Epileptogenesis.
- Published in:
- Epilepsy Currents, 2021, v. 21, n. 4, p. 298, doi. 10.1177/15357597211018687
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- Publication type:
- Article
TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?
- Published in:
- Epilepsy Currents, 2021, v. 21, n. 1, p. 60, doi. 10.1177/1535759720975750
- By:
- Publication type:
- Article
Promoting CRISPRa for Targeted Treatment of Epilepsy.
- Published in:
- Epilepsy Currents, 2020, v. 20, n. 4, p. 227, doi. 10.1177/1535759720935825
- By:
- Publication type:
- Article
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 114, doi. 10.1002/acn3.276
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- Publication type:
- Article