Works matching DE "GENETICS of epilepsy"
Results: 466
Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure.
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- Neurological Sciences, 2010, v. 31, n. 5, p. 675, doi. 10.1007/s10072-010-0390-6
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- Publication type:
- Article
Going to WAR: using a rat model of audiogenic seizure to uncover potential links to ventilatory dysfunction in epilepsy.
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- Journal of Physiology, 2017, v. 595, n. 3, p. 617, doi. 10.1113/JP273443
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- Publication type:
- Article
Integrative properties and transfer function of cortical neurons initiating absence seizures in a rat genetic model.
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- Journal of Physiology, 2016, v. 594, n. 22, p. 6733, doi. 10.1113/JP272162
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- Publication type:
- Article
Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.
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- Journal of Physiology, 2014, v. 592, n. 4, p. 795, doi. 10.1113/jphysiol.2013.264176
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- Publication type:
- Article
Analysis of Shared Genetic Regulatory Networks for Alzheimer's Disease and Epilepsy.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6692974
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- Publication type:
- Article
Endothelial cells are key-players in pilocarpine-induced epileptogenesis.
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- 2017
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- Publication type:
- Abstract
A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy.
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- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2017.00439
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- Publication type:
- Article
Pathophysiology and Clinical Utility of Non-coding RNAs in Epilepsy.
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- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00249
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- Publication type:
- Article
Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus.
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- Journal of Neuroscience, 2015, v. 35, n. 23, p. 8866, doi. 10.1523/JNEUROSCI.3470-14.2015
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- Article
LISI Deficiency Promotes Dysfunctional Synaptic Integration of Granule Cells Generated in the Developing and Adult Dentate Gyrus.
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- Journal of Neuroscience, 2012, v. 32, n. 37, p. 12862, doi. 10.1523/JNEUROSCI.1286-12.2012
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- Article
Oral presentations.
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- Developmental Medicine & Child Neurology, 2017, v. 59, p. 5, doi. 10.1111/dmcn.13622
- Publication type:
- Article
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
- Published in:
- 2015
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- Publication type:
- journal article
Genetic mechanisms in idiopathic epilepsies.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 9, p. 648, doi. 10.1111/j.1469-8749.2008.03058.x
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- Publication type:
- Article
Regulation of potassium channel genes important in epilepsy.
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- FASEB Journal, 2007, v. 21, n. 6, p. A957, doi. 10.1096/fasebj.21.6.a957-b
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- Publication type:
- Article
Late-onset jaw and teeth pain mimicking trigeminal neuralgia associated with chronic vagal nerve stimulation: case series and review of the literature.
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- 2017
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- Publication type:
- journal article
Prediction of gene-phenotype associations in humans, mice, and plants using phenologs.
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- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-203
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- Publication type:
- Article
Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
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- Human Genetics, 2014, v. 133, n. 5, p. 651, doi. 10.1007/s00439-013-1405-1
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- Publication type:
- Article
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
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- Human Genetics, 2013, v. 132, n. 3, p. 275, doi. 10.1007/s00439-012-1248-1
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- Publication type:
- Article
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
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- Human Genetics, 2009, v. 126, n. 1, p. 173, doi. 10.1007/s00439-009-0702-1
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- Publication type:
- Article
HLA-B*1502 Strongly Predicts Carbamazepine-Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Thai Patients with Neuropathic Pain.
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- Pain Practice, 2012, v. 12, n. 3, p. 202, doi. 10.1111/j.1533-2500.2011.00479.x
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- Publication type:
- Article
Mitochondrial damage in hippocampal neurons of rats with epileptic protein expression of Fas and caspase-3.
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- Experimental & Therapeutic Medicine, 2018, v. 16, n. 3, p. 2483, doi. 10.3892/etm.2018.6439
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- Publication type:
- Article
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.
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- 2018
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- Publication type:
- journal article
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.
- Published in:
- 2013
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- Publication type:
- Case Study
Type and etiology of pediatric epilepsy in Jordan: a multi-center study.
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- Neurosciences, 2017, v. 22, n. 4, p. 267, doi. 10.17712/nsj.2017.4.20170164
- Publication type:
- Article
Multidimensional Genetic Analysis of Repeated Seizures in the Hybrid Mouse Diversity Panel Reveals a Novel Epileptogenesis Susceptibility Locus.
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- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 8, p. 2545, doi. 10.1534/g3.117.042234
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- Publication type:
- Article
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.
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- ISRN Neurology, 2012, p. 1, doi. 10.5402/2012/508308
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- Publication type:
- Article
Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential.
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- Frontiers in Physiology, 2015, v. 6, p. 1, doi. 10.3389/fphys.2015.00168
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- Publication type:
- Article
Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms.
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- Journal of Neurosciences in Rural Practice, 2017, v. 8, n. 4, p. 691, doi. 10.4103/jnrp.jnrp_248_17
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- Publication type:
- Article
Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.
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- Journal of Central Nervous System Disease, 2022, p. 1, doi. 10.1177/11795735211060114
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- Publication type:
- Article
Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.
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- Journal of Central Nervous System Disease, 2019, v. 11, p. N.PAG, doi. 10.1177/1179573519849938
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- Publication type:
- Article
Symposia.
- Published in:
- 2018
- Publication type:
- Abstract
Reduction in focal ictal activity following transplantation of MGE interneurons requires expression of the GABA<sub>A</sub> receptor α4 subunit.
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- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00127
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- Publication type:
- Article
An inside job: how endosomal Na<sup>+</sup>/H<sup>+</sup> exchangers link to autism and neurological disease.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00172
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- Publication type:
- Article
Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy.
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- Neurochemical Research, 2016, v. 41, n. 7, p. 1774, doi. 10.1007/s11064-016-1893-1
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- Publication type:
- Article
Dentatorubral–Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.
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- 2025
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- Publication type:
- Letter
BRAT1 Mutation – A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype.
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- 2025
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- Publication type:
- Letter
Fumaric aciduria: A rare cause of refractory epilepsy.
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- 2022
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- Publication type:
- Case Study
A case of drug-resistant epilepsy associated with ring chromosome 20.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 805, doi. 10.4103/aian.AIAN_1292_20
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- Publication type:
- Article
CNNM2 heterozygous variant presenting as hypomagnesemia and west syndrome: Expanding the spectrum of CNNM2 gene-related epileptic disorders.
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- 2021
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- Publication type:
- Case Study
Molecular Genetics of Epilepsy: A Clinician's Perspective.
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- Annals of Indian Academy of Neurology, 2017, v. 20, n. 2, p. 96, doi. 10.4103/aian.AIAN_447_16
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- Publication type:
- Article
Short Communication. Hot water epilepsy: Phenotype and single photon emission computed tomography observations.
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- Annals of Indian Academy of Neurology, 2014, v. 17, n. 4, p. 470, doi. 10.4103/0972-2327.144043
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- Publication type:
- Article
Case Report. Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India.
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- Annals of Indian Academy of Neurology, 2014, v. 17, n. 4, p. 433, doi. 10.4103/0972-2327.144025
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- Publication type:
- Article
Pharmacogenetic evaluation of ABCB1, Cyp2C9, Cyp2C19 and methylene tetrahydrofolate reductase polymorphisms in teratogenicity of anti-epileptic drugs in women with epilepsy.
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- Annals of Indian Academy of Neurology, 2014, v. 17, n. 3, p. 259, doi. 10.4103/0972-2327.138475
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- Publication type:
- Article
Epilepsy: Indian perspective.
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- Annals of Indian Academy of Neurology, 2014, v. 17, n. S1, p. S3, doi. 10.4103/0972-2327.128643
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- Publication type:
- Article
Hot-water epilepsy: From bench to bedside.
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- Annals of Indian Academy of Neurology, 2013, v. 16, n. 2, p. 137, doi. 10.4103/0972-2327.112442
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- Publication type:
- Article
Genetic locus for Hot Water Epilepsy at 10q 21-23.
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- Annals of Indian Academy of Neurology, 2008, v. 11, p. S134
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- Publication type:
- Article
Genetics of Focal Epilepsies: Clinical Aspects and Molecular Biology.
- Published in:
- 1999
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- Publication type:
- Book Review
De novo mutations in epileptic encephalopathies.
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- Nature, 2013, v. 501, n. 7466, p. 217, doi. 10.1038/nature12439
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- Publication type:
- Article
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
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- JAMA Network Open, 2020, v. 3, n. 4, p. e203812, doi. 10.1001/jamanetworkopen.2020.3812
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- Publication type:
- Article
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
- Published in:
- JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
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- Publication type:
- Article