Works matching DE "GENETICS of epilepsy"
Results: 464
Migraine and epilepsy: what value today?
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- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A44
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- Publication type:
- Article
'Comorbidity' between epilepsy and headache/migraine: the other side of the same coin!
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- 2011
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- Publication type:
- Letter
Reply: 'Comorbidity between epilepsy and headache/migraine: the other side of the same coin!'.
- Published in:
- 2011
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- Publication type:
- Letter
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
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- Journal of Headache & Pain, 2011, v. 12, n. 4, p. 435, doi. 10.1007/s10194-011-0359-8
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- Publication type:
- Article
Control Charting Genomic Data.
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- Journal of Applied Laboratory Medicine, 2021, v. 6, n. 4, p. 892, doi. 10.1093/jalm/jfaa201
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- Publication type:
- Article
Investigating Epigenetic Influences on Seizure Disposition.
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- Canadian Journal of Neurological Sciences, 2009, v. 36, p. S78
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- Publication type:
- Article
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
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
Spontaneous seizures in Kcna1-null mice lacking voltage-gated Kv1.1 channels activate Fos expression in select limbic circuits.
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- Journal of Neurochemistry, 2015, v. 135, n. 1, p. 157, doi. 10.1111/jnc.13206
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- Publication type:
- Article
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.
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- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005347
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- Publication type:
- Article
Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.
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- Children, 2023, v. 10, n. 8, p. 1334, doi. 10.3390/children10081334
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- Publication type:
- Article
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
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- Children, 2023, v. 10, n. 3, p. 553, doi. 10.3390/children10030553
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- Publication type:
- Article
Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature.
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- Children, 2022, v. 9, n. 12, p. 1967, doi. 10.3390/children9121967
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- Publication type:
- Article
SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.
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- Children, 2022, v. 9, n. 10, p. 1507, doi. 10.3390/children9101507
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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
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
The genetic landscape of ganglioglioma.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0551-z
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- Publication type:
- Article
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6421039
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- Publication type:
- Article
Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population.
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- 2015
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- Publication type:
- journal article
The KCC2 Cotransporter and Human Epilepsy.
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- Neuroscientist, 2016, v. 22, n. 6, p. 555, doi. 10.1177/1073858416645087
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- Publication type:
- Article
Disease Mechanisms in Neuroscience.
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- Neuroscientist, 2001, v. 7, n. 6, p. 478, doi. 10.1177/107385840100700603
- Publication type:
- Article
Association between SCN1A polymorphism and carbamazepine-resistant epilepsy.
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- British Journal of Clinical Pharmacology, 2008, v. 66, n. 2, p. 304, doi. 10.1111/j.1365-2125.2008.03203.x
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- Publication type:
- Article
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
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- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1691, doi. 10.1093/hmg/9.11.1691
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- Publication type:
- Article
Ataxic mouse mutants and molecular mechanisms of absence epilepsy.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1907, doi. 10.1093/hmg/8.10.1907
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- 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
The role of epigenetic change in autism spectrum disorders.
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- Frontiers in Neurology, 2015, v. 6, p. 1, doi. 10.3389/fneur.2015.00107
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- Publication type:
- Article
Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy.
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- Frontiers in Neurology, 2015, v. 6, p. 1, doi. 10.3389/fneur.2015.00104
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- Publication type:
- Article
Spike dynamic and epigenetic malfunctions in epilepsy: a tale of two codes.
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- 2013
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- Publication type:
- Opinion
Upregulation of Rho7 in the temporal lobe tissue of humans with intractable epilepsy.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9613, doi. 10.3892/mmr.2017.7787
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- Publication type:
- Article
Integrative analysis of gene expression associated with epilepsy in human epilepsy and animal models.
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- Molecular Medicine Reports, 2016, v. 13, n. 6, p. 4920, doi. 10.3892/mmr.2016.5122
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- Publication type:
- Article
The Epilepsy Phenome/Genome Project.
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- Clinical Trials, 2013, v. 10, n. 4, p. 568, doi. 10.1177/1740774513484392
- Publication type:
- Article
Migraine and Epilepsy in Children: A Narrative Review of Comorbidity and Similar Treatment Option.
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- Iranian Journal of Child Neurology, 2024, v. 18, n. 3, p. 9, doi. 10.22037/ijcn.v18i3.44282
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- Publication type:
- Article
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience.
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- Iranian Journal of Child Neurology, 2019, v. 13, n. 1, p. 115
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- Publication type:
- Article
Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15).
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- Acta Neurologica Scandinavica, 2018, v. 137, n. 6, p. 575, doi. 10.1111/ane.12902
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- Publication type:
- Article
Sleep convulsive seizures predict lack of remission in genetic generalized epilepsies: A retrospective study from a single epilepsy center in Egypt.
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- Acta Neurologica Scandinavica, 2017, v. 136, n. 5, p. 528, doi. 10.1111/ane.12769
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- Publication type:
- Article
Next-generation sequencing in X-linked intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
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- Publication type:
- Article
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 628, doi. 10.1038/ejhg.2014.141
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- Publication type:
- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Publication type:
- Article
Epilepsy in head injury.
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- Neurology Asia, 2011, v. 16, n. S, p. 13
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- Publication type:
- Article
Consanguinity and inherited epilepsies.
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- Neurology Asia, 2011, v. 16, n. S, p. 11
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- Publication type:
- Article
Genetic testing for non-familial epilepsies.
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- 2010
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- Publication type:
- Abstract
Ethics in the genetics of epilepsy: What are the pros and cons?
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- Neurology Asia, 2010, v. 15, n. S1, p. 33
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- Publication type:
- Article
Generalized epilepsy with febrile seizures plus and classical idiopathic generalized epilepsy.
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- Neurology Asia, 2010, v. 15, n. S1, p. 3
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- Publication type:
- Article
Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders.
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- Neural Plasticity, 2011, v. 2011, p. 1, doi. 10.1155/2011/649325
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- Publication type:
- Article
Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells.
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- Stem Cells, 2016, v. 34, n. 1, p. 27, doi. 10.1002/stem.2203
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- Publication type:
- Article
Epilepsy genetics: clinical beginnings and social consequences.
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- QJM: An International Journal of Medicine, 2009, v. 102, n. 7, p. 497, doi. 10.1093/qjmed/hcp019
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- Publication type:
- Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
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- Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
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- Publication type:
- Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
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- Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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- Publication type:
- Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
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- Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
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- Publication type:
- Article