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Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31752-z
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- Publication type:
- Article
Focal Epilepsy in Children With Tuberous Sclerosis Complex: Does Vigabatrin Control Focal Seizures?
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 5, p. 329, doi. 10.1177/08830738211048326
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- Publication type:
- Article
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
- Published in:
- 2015
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- Publication type:
- journal article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
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- Publication type:
- Article
UNC13B and focal epilepsy.
- Published in:
- 2022
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- Publication type:
- Editorial
Atypical development of Broca's area in a large family with inherited stuttering.
- Published in:
- 2022
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- Publication type:
- journal article
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
- Published in:
- 2022
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- Publication type:
- journal article
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular epidemiology of monogenic epilepsies answers key clinical questions.
- Published in:
- 2019
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- Publication type:
- journal article
Dorsal language stream anomalies in an inherited speech disorder.
- Published in:
- 2019
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- Publication type:
- journal article
The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
- Published in:
- Journal of Neuroscience, 2023, v. 43, n. 12, p. 2199, doi. 10.1523/JNEUROSCI.1615-22.2022
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- Publication type:
- Article
A definition and classification of status epilepticus - Report of the ILAE Task Force on Classification of Status Epilepticus.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 10, p. 1515, doi. 10.1111/epi.13121
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- Publication type:
- Article
Early and effective treatment of KCNQ2 encephalopathy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 685, doi. 10.1111/epi.12984
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- Publication type:
- Article
Transition to adult life in the monogenic epilepsies.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, p. 12, doi. 10.1111/epi.12707
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- Publication type:
- Article
ILAE Official Report: A practical clinical definition of epilepsy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 4, p. 475, doi. 10.1111/epi.12550
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- Publication type:
- Article
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 3, p. e22, doi. 10.1111/epi.12533
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- Publication type:
- Article
Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e18, doi. 10.1111/epi.12519
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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
SCN1A testing for epilepsy: Application in clinical practice.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 5, p. 946, doi. 10.1111/epi.12168
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- Publication type:
- Article
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 5, p. e86, doi. 10.1111/epi.12167
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- Publication type:
- Article
Siblings with refractory occipital epilepsy showing localized network activity on EEG-f MRI.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 2, p. e28, doi. 10.1111/epi.12076
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- Publication type:
- Article
Clinical genetic study of the epilepsy-aphasia spectrum.
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- Epilepsia (Series 4), 2013, v. 54, n. 2, p. 280, doi. 10.1111/epi.12065
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- Publication type:
- Article
Family studies of individuals with eyelid myoclonia with absences.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2141, doi. 10.1111/j.1528-1167.2012.03692.x
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- Publication type:
- Article
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. e204, doi. 10.1111/epi.12007
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- Publication type:
- Article
Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. e151, doi. 10.1111/j.1528-1167.2012.03585.x
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- Publication type:
- Article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
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- Publication type:
- Article
Epilepsy: A classification for all seasons?
- Published in:
- Epilepsia (Series 4), 2012, v. 53, p. 6, doi. 10.1111/j.1528-1167.2012.03551.x
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- Publication type:
- Article
Efficacy of the ketogenic diet: Which epilepsies respond?
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 3, p. e55, doi. 10.1111/j.1528-1167.2011.03394.x
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- Publication type:
- Article
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 2, p. 319, doi. 10.1111/j.1528-1167.2011.03368.x
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- Publication type:
- Article
Long-term follow-up of febrile infection-related epilepsy syndrome.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 1, p. 101, doi. 10.1111/j.1528-1167.2011.03350.x
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- Publication type:
- Article
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.
- Published in:
- 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
A retrospective population-based study on seizures related to childhood vaccination.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 8, p. 1506, doi. 10.1111/j.1528-1167.2011.03134.x
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- Publication type:
- Article
What is at stake in a classification?
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- Epilepsia (Series 4), 2011, v. 52, n. 6, p. 1205, doi. 10.1111/j.1528-1167.2011.03110.x
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- Publication type:
- Article
New concepts in classification of the epilepsies: Entering the 21st century.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 6, p. 1058, doi. 10.1111/j.1528-1167.2011.03101.x
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- Publication type:
- Article
Autoantibodies and epilepsy.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, p. 18, doi. 10.1111/j.1528-1167.2011.03031.x
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- Publication type:
- Article
The genetics of Dravet syndrome.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, p. 24, doi. 10.1111/j.1528-1167.2011.02997.x
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- Publication type:
- Article
Genetics of the epilepsies: Channelopathies and beyond.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 1, p. 192, doi. 10.1111/j.1528-1167.2010.02934.x
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- Publication type:
- Article
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2453, doi. 10.1111/j.1528-1167.2010.02712.x
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- Publication type:
- Article
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1865, doi. 10.1111/j.1528-1167.2010.02558.x
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- Publication type:
- Article
Genetic testing in the epilepsies—Report of the ILAE Genetics Commission.
- Published in:
- 2010
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- Publication type:
- Report
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009.
- Published in:
- 2010
- By:
- Publication type:
- Report
Genetics of the epilepsies: Genetic twists in the channels and other tales.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 33, doi. 10.1111/j.1528-1167.2009.02440.x
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- Publication type:
- Article
Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 2, p. 293, doi. 10.1111/j.1528-1167.2009.02317.x
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- Publication type:
- Article
Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 10, p. 2276, doi. 10.1111/j.1528-1167.2009.02065.x
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- Publication type:
- Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis.
- Published in:
- 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
EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1572, doi. 10.1111/j.1528-1167.2008.02001.x
- By:
- Publication type:
- Article
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
- Published in:
- 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
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 12, p. 2125, doi. 10.1111/j.1528-1167.2008.01652.x
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- Publication type:
- Article
Classification and clinical features of absence epilepsies: How evidence leads to changing concepts.
- Published in:
- 2008
- By:
- Publication type:
- Letter