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Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.559080
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- Publication type:
- Article
HLA-B<sup>*</sup>13:01 as a Risk Allele for Antiepileptic Drugs-Induced Cutaneous Adverse Reactions: Higher Risk for Cross-Reactivity?
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00614
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- Publication type:
- Article
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
- Published in:
- Neuroscience Bulletin, 2017, v. 33, n. 4, p. 455, doi. 10.1007/s12264-017-0134-1
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- Publication type:
- Article
A conserved region in the 3′ untranslated region of the human LIMK1 gene is critical for proper expression of LIMK1 at the post-transcriptional level.
- Published in:
- Neuroscience Bulletin, 2013, v. 29, n. 3, p. 348, doi. 10.1007/s12264-013-1341-z
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- Publication type:
- Article
Expression changes of microtubule associated protein 1B in the brain of Fmr1 knockout mice.
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- Neuroscience Bulletin, 2007, v. 23, n. 4, p. 203, doi. 10.1007/s12264-007-0030-1
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- Publication type:
- Article
Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability.
- Published in:
- CNS Neuroscience & Therapeutics, 2023, v. 29, n. 2, p. 727, doi. 10.1111/cns.14057
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- Publication type:
- Article
CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.
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- CNS Neuroscience & Therapeutics, 2022, v. 28, n. 3, p. 382, doi. 10.1111/cns.13781
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- Publication type:
- Article
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
- Published in:
- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 10, p. 1146, doi. 10.1111/cns.13692
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- Publication type:
- Article
Reply: UNC13B and focal epilepsy.
- Published in:
- 2022
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- Publication type:
- Editorial
UNC13B variants associated with partial epilepsy with favourable outcome.
- Published in:
- 2021
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- Publication type:
- journal article
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
- Published in:
- 2019
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- Publication type:
- journal article
CELSR1 variants are associated with partial epilepsy of childhood.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2022, v. 189, n. 7/8, p. 247, doi. 10.1002/ajmg.b.32916
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- Publication type:
- Article
Promoter Analysis of Mouse Scn3a Gene and Regulation of the Promoter Activity by GC Box and CpG Methylation.
- Published in:
- Journal of Molecular Neuroscience, 2011, v. 44, n. 2, p. 115, doi. 10.1007/s12031-011-9492-8
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- Publication type:
- Article
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 801, doi. 10.1007/s00439-014-1422-8
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- Publication type:
- Article
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnins.2021.629610
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- Publication type:
- Article
DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00821
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- Publication type:
- Article
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.825390
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- Publication type:
- Article
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.862480
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- Publication type:
- Article
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.860662
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- Publication type:
- Article
Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.
- Published in:
- Briefings in Bioinformatics, 2020, v. 21, n. 5, p. 1776, doi. 10.1093/bib/bbz115
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- Publication type:
- Article
Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome.
- Published in:
- Psychopharmacology, 2011, v. 215, n. 2, p. 291, doi. 10.1007/s00213-010-2130-2
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- Publication type:
- Article
Efficacy and safety of cyclophosphamide as a sequential immunotherapy drug for anti-N-methyl-D-aspartate receptor encephalitis in children.
- Published in:
- Chinese Journal of Contemporary Pediatrics, 2017, v. 19, n. 6, p. 668, doi. 10.7499/j.issn.1008-8830.2017.06.011
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- Publication type:
- Article
Limbic Epileptogenesis in a Mouse Model of Fragile X Syndrome.
- Published in:
- Cerebral Cortex, 2009, v. 19, n. 7, p. 1504, doi. 10.1093/cercor/bhn163
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- Publication type:
- Article
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.720984
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- Publication type:
- Article
The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 573, doi. 10.1002/humu.22782
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- Publication type:
- Article
<italic>ARHGEF9</italic> mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
- Published in:
- Neurogenetics, 2018, v. 19, n. 1, p. 9, doi. 10.1007/s10048-017-0528-2
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- Publication type:
- Article
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
- Published in:
- 2011
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- Publication type:
- Letter
Involvement of FMRP in Primary MicroRNA Processing via Enhancing Drosha Translation.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 4, p. 2585, doi. 10.1007/s12035-016-9855-9
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- Publication type:
- Article
Epigenetic Downregulation of Scn3a Expression by Valproate: a Possible Role in Its Anticonvulsant Activity.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 4, p. 2831, doi. 10.1007/s12035-016-9871-9
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- Publication type:
- Article
A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome.
- Published in:
- Molecular Neurobiology, 2015, v. 51, n. 3, p. 1053, doi. 10.1007/s12035-014-8770-1
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- Publication type:
- Article
Transcription of the Human Sodium Channel SCN1A Gene Is Repressed by a Scaffolding Protein RACK1.
- Published in:
- Molecular Neurobiology, 2014, v. 50, n. 2, p. 438, doi. 10.1007/s12035-014-8633-9
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- Publication type:
- Article
Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 4, p. 272
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- Publication type:
- Article