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Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9‐year chart review study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 11, p. 2139, doi. 10.1002/aur.3042
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- Article
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
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- Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
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- Article
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
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- Cerebral Cortex, 2023, v. 33, n. 16, p. 9532, doi. 10.1093/cercor/bhad224
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- Article
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1215618
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- Article
Adaptive behaviour in adolescents and adults with Dravet syndrome.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 6, p. 838, doi. 10.1111/dmcn.15448
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- Article
Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs.
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- Translational Psychiatry, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41398-023-02407-4
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- Publication type:
- Article
Self-limited focal epilepsy in a young child with SARS-CoV-2.
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- Minerva Pediatrics, 2023, v. 75, n. 1, p. 135, doi. 10.23736/S2724-5276.21.06058-4
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- Publication type:
- Article
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program.
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- Epilepsia Open, 2022, v. 7, n. 4, p. 578, doi. 10.1002/epi4.12624
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- Article
KETASER01 protocol: What went right and what went wrong.
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- Epilepsia Open, 2022, v. 7, n. 3, p. 532, doi. 10.1002/epi4.12627
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- Article
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
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- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 527, doi. 10.3390/jpm12040527
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- Article
Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study.
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- Sensors (14248220), 2022, v. 22, n. 6, p. 2140, doi. 10.3390/s22062140
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- Publication type:
- Article
Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome.
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- Epilepsia Open, 2021, v. 6, n. 1, p. 216, doi. 10.1002/epi4.12464
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- Article
Postural Control in Childhood: Investigating the Neurodevelopmental Gradient Hypothesis.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1693, doi. 10.3390/ijerph18041693
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- Publication type:
- Article
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study.
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- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2405, doi. 10.1111/epi.16690
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- Article
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults.
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- Epilepsia (Series 4), 2020, v. 60, p. S49, doi. 10.1111/epi.16297
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- Publication type:
- Article
Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults.
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- Epilepsia (Series 4), 2019, v. 60, n. 3, p. S49, doi. 10.1111/epi.16297
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- Article
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study.
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- Epilepsia (Series 4), 2018, v. 59, n. 12, p. 2260, doi. 10.1111/epi.14600
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- Article
Chiari 1 Malformation in a Child with Febrile Seizures, Parasomnias, and Sleep Apnea Syndrome.
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- 2017
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- Case Study
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
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- 2016
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- Publication type:
- journal article
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
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- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 692, doi. 10.1111/epi.12977
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- Publication type:
- Article
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
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- Epilepsia (Series 4), 2014, v. 55, n. 11, p. 1748, doi. 10.1111/epi.12803
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- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
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- Article
Epilepsy-related brain networks in ring chromosome 20 syndrome: An EEG- fMRI study.
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- Epilepsia (Series 4), 2014, v. 55, n. 3, p. 403, doi. 10.1111/epi.12539
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- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- 2014
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- Publication type:
- case study
Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study.
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- Epilepsia (Series 4), 2013, v. 54, p. 66, doi. 10.1111/epi.12311
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- Publication type:
- Article
Clinical dissection of early onset absence epilepsy in children and prognostic implications.
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- Epilepsia (Series 4), 2013, v. 54, n. 10, p. 1761, doi. 10.1111/epi.12341
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- Publication type:
- Article
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance.
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- Epilepsia (Series 4), 2013, v. 54, n. 3, p. 425, doi. 10.1111/epi.12089
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- Publication type:
- Article
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
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- Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2111, doi. 10.1111/j.1528-1167.2012.03649.x
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- Publication type:
- Article
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature.
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- Epilepsia (Series 4), 2012, v. 53, n. 7, p. 1146, doi. 10.1111/j.1528-1167.2012.03501.x
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- Publication type:
- Article
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
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- Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1251, doi. 10.1111/j.1528-1167.2011.03063.x
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- Publication type:
- Article
Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life.
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- Journal of Child Neurology, 2011, v. 26, n. 6, p. 683, doi. 10.1177/0883073810387827
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- Publication type:
- Article
A multicenter, randomized, placebo-controlled trial of levetiracetam in children and adolescents with newly diagnosed absence epilepsy.
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- Epilepsia (Series 4), 2011, v. 52, n. 4, p. 802, doi. 10.1111/j.1528-1167.2010.02976.x
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- Publication type:
- Article
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients.
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- Epilepsia (Series 4), 2011, v. 52, n. 2, p. 386, doi. 10.1111/j.1528-1167.2010.02925.x
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- Publication type:
- Article
Absence seizures in the first 3 years of life: An electroclinical study of 46 cases.
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- Epilepsia (Series 4), 2011, v. 52, n. 2, p. 393, doi. 10.1111/j.1528-1167.2010.02926.x
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- Publication type:
- Article
Ring chromosome 20 syndrome: A link between epilepsy onset and neuropsychological impairment in three children.
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- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2420, doi. 10.1111/j.1528-1167.2009.02176.x
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- Publication type:
- Article
Migrating Focal Seizures in Infancy: Analysis of the Electroclinical Patterns in 17 Patients.
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- Journal of Child Neurology, 2008, v. 23, n. 5, p. 497, doi. 10.1177/0883073807309771
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- Publication type:
- Article
Scotosensitive and Photosensitive Myoclonic Seizures in an Infant with Trisomy 13.
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- Epilepsia (Series 4), 2007, v. 48, n. 11, p. 2177, doi. 10.1111/j.1528-1167.2007.01220.x
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- Article
Uncombable Hair Syndrome, Mental Retardation, Single Palmar Crease and Arched Palate in a Patient with Neurofibromatosis Type I.
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- Pediatric Dermatology, 2007, v. 24, n. 5, p. E73, doi. 10.1111/j.1525-1470.2007.00446.x
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- Publication type:
- Article
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations.
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- Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1092, doi. 10.1111/j.1528-1167.2007.01020.x
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- Publication type:
- Article
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730
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- Article
Temporal Lobe Epilepsy in Children: Electroclinical Study of 77 Cases.
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- Epilepsia (Series 4), 2006, v. 47, p. 26, doi. 10.1111/j.1528-1167.2006.00873.x
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- Publication type:
- Article
Benign Myoclonic Epilepsy in Infancy (BMEI): A Longitudinal Electroclinical Study of 22 Cases.
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- Epilepsia (Series 4), 2006, v. 47, p. 31, doi. 10.1111/j.1528-1167.2006.00874.x
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- Publication type:
- Article
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.
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- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x
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- Article