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Voltage-Gated Na<sup>+</sup> Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 41, p. 14577, doi. 10.1523/JNEUROSCI.0361-11.2011
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- Publication type:
- Article
The genetic landscape of infantile spasms.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4846, doi. 10.1093/hmg/ddu199
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- Publication type:
- Article
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
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- Human Molecular Genetics, 2014, v. 23, n. 1, p. 90, doi. 10.1093/hmg/ddt401
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- Publication type:
- Article
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
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- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2186, doi. 10.1093/hmg/ddt071
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- Publication type:
- Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
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- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
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- Publication type:
- Article
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3965
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- Publication type:
- Article
Sacred disease secrets revealed: the genetics of human epilepsy.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2491, doi. 10.1093/hmg/ddi250
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- Publication type:
- Article
Retrospective analysis of phone queries to an epilepsy clinic hotline.
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- Canadian Journal of Neuroscience Nursing / Journal Canadien des Infirmières et Infirmiers en Neurosciences, 2014, v. 36, n. 3, p. 41
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- Article
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
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- Annals of Neurology, 2015, v. 78, n. 2, p. 323, doi. 10.1002/ana.24457
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- Publication type:
- Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
- Published in:
- 2015
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- Publication type:
- Journal Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC 5 mutations.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 4, p. 675, doi. 10.1002/ana.24368
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- Publication type:
- Article
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1441, doi. 10.3390/genes12091441
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- Publication type:
- Article
Utility of magnetic source imaging in nonlesional focal epilepsy: a prospective study.
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- Neurosurgical Focus, 2020, v. 48, n. 4, p. 1, doi. 10.3171/2020.1.FOCUS19877
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- Publication type:
- Article
Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord.
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- PLoS Genetics, 2008, v. 4, n. 12, p. 1, doi. 10.1371/journal.pgen.1000296
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- Publication type:
- Article
Unraveling the role of non-coding rare variants in epilepsy.
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- PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0291935
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- Publication type:
- Article
Single-cell genetic expression of mutant GABA<sub>A</sub> receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.
- Published in:
- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00317
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- Publication type:
- Article
Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1050, doi. 10.1002/acn3.51598
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- Publication type:
- Article
Endo-MitoEGFP Mice: A Novel Transgenic Mouse with Fluorescently Marked Mitochondria in Microvascular Endothelial Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074603
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- Publication type:
- Article
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
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- Nature Genetics, 2002, v. 31, n. 2, p. 184, doi. 10.1038/ng885
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- Article
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
Novel α1 and γ2 GABA<sub>A</sub> receptor subunit mutations in families with idiopathic generalized epilepsy.
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- European Journal of Neuroscience, 2011, v. 34, n. 2, p. 237, doi. 10.1111/j.1460-9568.2011.07767.x
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- Publication type:
- Article
Lamotrigine Therapy of Epilepsy with Angelman's Syndrome.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 3, p. 593, doi. 10.1111/j.1528-1167.2006.00969.x
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- Publication type:
- Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
- Published in:
- EMBO Reports, 2014, v. 15, n. 7, p. 766, doi. 10.15252/embr.201438840
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- Publication type:
- Article
Human copy number variants are enriched in regions of low mappability.
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- Nucleic Acids Research, 2018, v. 46, n. 14, p. 7236, doi. 10.1093/nar/gky538
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- Publication type:
- Article
Molecular analysis of the A322D mutation in the GABA<sub>A</sub> receptor α<sub>1</sub>-subunit causing juvenile myoclonic epilepsy.
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- European Journal of Neuroscience, 2005, v. 22, n. 1, p. 10, doi. 10.1111/j.1460-9568.2005.04168.x
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- Publication type:
- Article
Effects of SYN1<sub>Q555X</sub> mutation on cortical gray matter microstructure.
- Published in:
- Human Brain Mapping, 2018, v. 39, n. 8, p. 3428, doi. 10.1002/hbm.24186
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- Publication type:
- Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
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- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007285
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- Publication type:
- Article
Novel NALCN variant linked to temporal lobe epilepsy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1942, doi. 10.1002/ajmg.a.63209
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- Publication type:
- Article
A mutation in the GABAA receptor α1‐subunit is associated with absence epilepsy.
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- Annals of Neurology, 2006, v. 59, n. 6, p. 983
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- Publication type:
- Article
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1‐10q24.1.
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- Annals of Neurology, 2004, v. 56, n. 4, p. 579, doi. 10.1002/ana.20239
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- Publication type:
- Article
Diverse genetic causes of polymicrogyria with epilepsy.
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- Epilepsia (Series 4), 2021, v. 62, n. 4, p. 973, doi. 10.1111/epi.16854
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- Publication type:
- Article
Increased frequency of proinflammatory CD4 T cells and pathological levels of serum neurofilament light chain in adult drug‐resistant epilepsy.
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- Epilepsia (Series 4), 2021, v. 62, n. 1, p. 176, doi. 10.1111/epi.16742
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- Publication type:
- Article
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.
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- Epilepsia (Series 4), 2019, v. 60, n. 11, p. 2194, doi. 10.1111/epi.16354
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- Publication type:
- Article
γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment.
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- Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2061, doi. 10.1111/epi.14576
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- Publication type:
- Article
X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.
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- Epilepsia (Series 4), 2015, v. 56, n. 7, p. 1098, doi. 10.1111/epi.13042
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- Publication type:
- Article
Mutated GABA.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 62, doi. 10.1111/j.1528-1167.2010.02848.x
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- Publication type:
- Article
Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.
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- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1894, doi. 10.1111/j.1528-1167.2010.02642.x
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- Publication type:
- Article
Channelopathies and juvenile myoclonic epilepsy.
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- Epilepsia (Series 4), 2010, v. 51, p. 30, doi. 10.1111/j.1528-1167.2009.02439.x
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- Publication type:
- Article
Revisiting the role of the insula in refractory partial epilepsy.
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- Epilepsia (Series 4), 2009, v. 50, n. 3, p. 510, doi. 10.1111/j.1528-1167.2008.01758.x
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- Publication type:
- Article
Expanding the Clinical Phenotype Associated With ELOVL4 Mutation.
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- JAMA Neurology, 2014, v. 71, n. 4, p. 470, doi. 10.1001/jamaneurol.2013.6337
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- Publication type:
- Article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article