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Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
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- Publication type:
- Article
Il monitoraggio terapeutico della Cannabis medica nei pazienti pediatrici: l'esperienza dell'Istituto Giannina Gaslini.
- Published in:
- Biochimica Clinica, 2023, v. 47, n. 3, p. 271, doi. 10.19186/BC_2023.038
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- Publication type:
- Article
Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 9, p. 5229, doi. 10.1007/s10072-022-06148-y
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- Publication type:
- Article
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
- Published in:
- 2021
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- Publication type:
- Letter
Is Covid-19 lockdown related to an increase of accesses for seizures in the emergency department? An observational analysis of a paediatric cohort in the Southern Italy.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 12, p. 3475, doi. 10.1007/s10072-020-04824-5
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- Publication type:
- Article
Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients.
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- Neurological Sciences, 2020, v. 41, n. 9, p. 2353, doi. 10.1007/s10072-020-04544-w
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- Publication type:
- Article
Clinico-diagnostic features of neuralgic amyotrophy in childhood.
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- Neurological Sciences, 2020, v. 41, n. 7, p. 1735, doi. 10.1007/s10072-020-04314-8
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- Publication type:
- Article
Reply to: "the complex interrelations between two paroxysmal disorders: headache and epilepsy".
- Published in:
- 2017
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- Publication type:
- Letter
Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis.
- Published in:
- 2017
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- Publication type:
- journal article
Psychiatric features in gelastic epilepsy and hypothalamic hamartoma: long-term psychodiagnostic observations.
- Published in:
- 2014
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- Publication type:
- Letter
Psychiatric features in gelastic epilepsy and hypothalamic hamartoma: long-term psychodiagnostic observations.
- Published in:
- 2014
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- Publication type:
- Case Study
Is it migralepsy? No evidence yet.
- Published in:
- 2013
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- Publication type:
- Letter
From migralepsy to ictal epileptic headache: the story so far.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 10, p. 1805, doi. 10.1007/s10072-012-1012-2
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- Publication type:
- Article
Posterior cortical atrophy with prominent alexia without agraphia in a Tourette syndrome.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 6, p. 1129, doi. 10.1007/s10072-011-0760-8
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- Publication type:
- Article
Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 4, p. 547, doi. 10.1007/s10072-011-0566-8
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- Publication type:
- Article
Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms.
- Published in:
- 2011
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- Publication type:
- Letter
Sudden death in Unverricht–Lundborg patients: is serotonin the key?
- Published in:
- 2010
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- Publication type:
- Letter
Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 2, p. 117, doi. 10.1007/s10072-009-0157-0
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- Publication type:
- Article
Erratum to: Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Sudden death in Unverricht-Lundborg patients: is serotonin the key?
- Published in:
- 2010
- By:
- Publication type:
- Letter
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 1, p. 9, doi. 10.1007/s10072-009-0160-5
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- Publication type:
- Article
Cannabidiol, Δ<sup>9</sup>-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.1038754
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- Publication type:
- Article
Improving Therapy of Pharmacoresistant Epilepsies: The Role of Fenfluramine.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.832929
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- Publication type:
- Article
Ictal Epileptic Headache: When Terminology Is Not a Moot Question.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00785
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- Publication type:
- Article
UHPLC-MS/MS Analysis of Cannabidiol and Its Metabolites in Serum of Patients with Resistant Epilepsy Treated with CBD Formulations.
- Published in:
- Pharmaceuticals (14248247), 2021, v. 14, n. 7, p. 630, doi. 10.3390/ph14070630
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- Publication type:
- Article
A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.
- Published in:
- Neonatology (16617800), 2017, v. 112, n. 4, p. 387, doi. 10.1159/000478651
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- Publication type:
- Article
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323
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- Publication type:
- Article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
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- Publication type:
- journal article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
- Published in:
- 2021
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- Publication type:
- journal article
Cortical tremor: a tantalizing conundrum between cortex and cerebellum.
- Published in:
- 2020
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- Publication type:
- Letter
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
- Published in:
- 2020
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- Publication type:
- journal article
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
- Published in:
- 2017
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- Publication type:
- journal article
In response: DEPDC5 mutations in epilepsy with auditory features.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 2, p. 336, doi. 10.1111/epi.13255
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- Publication type:
- Article
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
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- Epilepsia (Series 4), 2015, v. 56, n. 12, p. e203, doi. 10.1111/epi.13222
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- Publication type:
- Article
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
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- Epilepsia (Series 4), 2015, v. 56, n. 10, p. e168, doi. 10.1111/epi.13094
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- Publication type:
- Article
Mutations in KCNT1 cause a spectrum of focal epilepsies.
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- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e114, doi. 10.1111/epi.13071
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- Publication type:
- Article
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
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- Epilepsia (Series 4), 2015, v. 56, n. 4, p. e40, doi. 10.1111/epi.12944
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- Publication type:
- Article
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
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- Epilepsia (Series 4), 2015, v. 56, n. 2, p. e15, doi. 10.1111/epi.12887
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- Publication type:
- Article
Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees.
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- Epilepsia (Series 4), 2014, v. 55, n. 10, p. 1651, doi. 10.1111/epi.12767
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- Publication type:
- Article
Co-occurring malformations of cortical development and SCN1A gene mutations.
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- Epilepsia (Series 4), 2014, v. 55, n. 7, p. 1009, doi. 10.1111/epi.12658
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- Publication type:
- Article
Seizures in fetal alcohol spectrum disorders: Evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 6, p. e60, doi. 10.1111/epi.12638
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- Publication type:
- Article
Genetic epileptic encephalopathies: Is all written into the DNA?
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- Epilepsia (Series 4), 2013, v. 54, p. 22, doi. 10.1111/epi.12419
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- Publication type:
- Article
Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, p. 66, doi. 10.1111/epi.12311
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- Publication type:
- Article
Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 8, p. e112, doi. 10.1111/epi.12259
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- Publication type:
- Article
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.
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- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1288, doi. 10.1111/epi.12194
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- Publication type:
- Article
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
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- Epilepsia (Series 4), 2013, v. 54, n. 5, p. e69, doi. 10.1111/epi.12130
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- Publication type:
- Article
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 3, p. 425, doi. 10.1111/epi.12089
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- Publication type:
- Article
Early onset absence epilepsy: What changes using Panayiotopoulos's criteria?
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 4, p. 765, doi. 10.1111/epi.12097
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- Publication type:
- Article
An international pilot study of an internet-based platform to facilitate clinical research in epilepsy: The EpiNet project.
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- Epilepsia (Series 4), 2012, v. 53, n. 10, p. 1829, doi. 10.1111/j.1528-1167.2012.03636.x
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- Publication type:
- Article
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 2, p. 308, doi. 10.1111/j.1528-1167.2011.03379.x
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- Publication type:
- Article