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Genetic variations and associated pathophysiology in the management of epilepsy.
- Published in:
- Application of Clinical Genetics, 2011, v. 4, p. 113, doi. 10.2147/TACG.S7407
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- Publication type:
- Article
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 9, p. e122, doi. 10.1111/epi.12323
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- Publication type:
- Article
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
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- Epilepsia (Series 4), 2013, v. 54, n. 5, p. e86, doi. 10.1111/epi.12167
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- Publication type:
- Article
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
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- Epilepsia (Series 4), 2011, v. 52, n. 12, p. 2356, doi. 10.1111/j.1528-1167.2011.03307.x
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- Publication type:
- Article
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.
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- Epilepsia (Series 4), 2011, v. 52, n. 10, p. e139, doi. 10.1111/j.1528-1167.2011.03188.x
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- Publication type:
- Article
'Blinders, phenotype, and fashionable genetic analysis': Setting the record straight for epilepsy!
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- Epilepsia (Series 4), 2011, v. 52, n. 9, p. 1757, doi. 10.1111/j.1528-1167.2011.03054.x
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- Publication type:
- Article
Proposed genetic classification of the 'benign' familial neonatal and infantile epilepsies.
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- Epilepsia (Series 4), 2011, v. 52, n. 3, p. 649, doi. 10.1111/j.1528-1167.2010.02953.x
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- Publication type:
- Article
Genetics of the epilepsies: Genetic twists in the channels and other tales.
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- Epilepsia (Series 4), 2010, v. 51, p. 33, doi. 10.1111/j.1528-1167.2009.02440.x
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- Publication type:
- Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis.
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- Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1670, doi. 10.1111/j.1528-1167.2009.02013.x
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- Publication type:
- Article
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
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- Epilepsia (Series 4), 2009, v. 50, n. 4, p. 953, doi. 10.1111/j.1528-1167.2009.02023.x
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- Publication type:
- Article
Gene expression analysis in absence epilepsy using a monozygotic twin design.
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- Epilepsia (Series 4), 2008, v. 49, n. 9, p. 1546, doi. 10.1111/j.1528-1167.2008.01630.x
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- Publication type:
- Article
Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes?
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1807, doi. 10.1111/j.1528-1167.2007.01138.x
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- Publication type:
- Article
Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+).
- Published in:
- Epilepsia (Series 4), 2005, v. 46, p. 41, doi. 10.1111/j.1528-1167.2005.00358.x
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- Publication type:
- Article
Clinical Research Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 5, p. 467, doi. 10.1111/j.0013-9580.2004.46803.x
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- Publication type:
- Article
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 15133, doi. 10.3390/ijms232315133
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- Publication type:
- Article
Chromosomal Instability Causes Sensitivity to Polyamines and One-Carbon Metabolism.
- Published in:
- Metabolites (2218-1989), 2023, v. 13, n. 5, p. 642, doi. 10.3390/metabo13050642
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- Publication type:
- Article
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3033, doi. 10.1002/ajmg.a.37853
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- Publication type:
- Article
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
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- Publication type:
- Article
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1188, doi. 10.1038/ng.2440
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- Publication type:
- Article
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
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- Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149
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- Publication type:
- Article
Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118946
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- Publication type:
- Article
Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 1, p. 85, doi. 10.1111/dmcn.12322
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- Publication type:
- Article
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl<sup>−</sup> extrusion and dendritic spine formation.
- Published in:
- EMBO Reports, 2014, v. 15, n. 6, p. 723, doi. 10.1002/embr.201438749
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- Publication type:
- Article
δ Subunit Susceptibility Variants E177A and R220H Associated with Complex Epilepsy Alter Channel Gating and Surface Expression of α4β2δGABA<sub>A</sub> Receptors.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 5, p. 1499, doi. 10.1523/JNEUROSCI.2913-05.2006
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- Publication type:
- Article
Epilepsy and mental retardation limited to females: an under-recognized disorder.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
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- Publication type:
- Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 843
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- Publication type:
- Article
Temporal lobe epilepsy and GEFS phenotypes associated with SCN1B mutations.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 1, p. 100
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- Publication type:
- Article
Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.
- Published in:
- Journal of Molecular Neuroscience, 2024, v. 74, n. 2, p. 1, doi. 10.1007/s12031-024-02227-1
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- Publication type:
- Article
Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 2, p. 386, doi. 10.1002/acn3.708
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- Publication type:
- Article
Investigating genetic variants in microRNA regulators of Neurokinin‐1 receptor in sudden infant death syndrome.
- Published in:
- Acta Paediatrica, 2023, v. 112, n. 2, p. 273, doi. 10.1111/apa.16580
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- Publication type:
- Article
Reply.
- Published in:
- 2016
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- Publication type:
- Letter
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
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- Publication type:
- Article
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 4, p. 581, doi. 10.1002/ana.24128
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- Publication type:
- Article
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 4, p. 542, doi. 10.1002/ana.21909
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- Publication type:
- Article
Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues.
- Published in:
- 2017
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- Publication type:
- Other
SCN1A mutations and epilepsy.
- Published in:
- Human Mutation, 2005, v. 25, n. 6, p. 535, doi. 10.1002/humu.20178
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- Publication type:
- Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
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- Publication type:
- Article
Susceptibility genes for complex epilepsy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 2, p. r243, doi. 10.1093/hmg/ddi355
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- Publication type:
- Article
Susceptibility genes for complex epilepsy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R243, doi. 10.1093/hmg/ddi355
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- Publication type:
- Article
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 13, p. 1315, doi. 10.1093/hmg/ddh146
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- Publication type:
- Article
A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker–Warburg-like Features.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1031, doi. 10.3390/genes15081031
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- Publication type:
- Article
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
- Published in:
- Movement Disorders, 2012, v. 27, n. 9, p. 1200, doi. 10.1002/mds.25083
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- Publication type:
- Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
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- Publication type:
- Article
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53588-x
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- Publication type:
- Article