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Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 386, doi. 10.1111/cge.14581
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- Publication type:
- Article
Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks.
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- Movement Disorders, 2010, v. 25, n. 6, p. 788, doi. 10.1002/mds.23008
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- Publication type:
- Article
MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy - comparison with human epileptic samples.
- Published in:
- Scientific Reports, 2015, p. 14143, doi. 10.1038/srep14143
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- Publication type:
- Article
Facial Expression of Emotion in Human Frontal and Temporal Lobe Epileptic Seizures.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 1000, n. 1, p. 393, doi. 10.1196/annals.1280.038
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- Publication type:
- Article
Recovery from emotion recognition impairment after temporal lobectomy.
- Published in:
- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00092
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- Publication type:
- Article
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 609, p. 1, doi. 10.1126/scitranslmed.aaz4957
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- Publication type:
- Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
- Published in:
- 2017
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- Publication type:
- journal article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
- Published in:
- 2016
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- Publication type:
- journal 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
Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
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- Publication type:
- Article
Trait impulsivity in Juvenile Myoclonic Epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 138, doi. 10.1002/acn3.51255
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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
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1051, doi. 10.3390/genes12071051
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- Publication type:
- Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643
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- Publication type:
- Article
Editorial: SLC6A1: the past, present and future.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1289821
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- Publication type:
- Article
Add-on perampanel and aggressive behaviour in severe drug-resistant focal epilepsies.
- Published in:
- Functional Neurology, 2017, v. 32, n. 4, p. 215
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- Publication type:
- Article
Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood.
- Published in:
- Functional Neurology, 2015, v. 30, n. 2, p. 139
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- Publication type:
- Article
Corticosteroids versus clobazam in epileptic encephalopathy with ESES: a European multicentre randomised controlled clinical trial (RESCUE ESES*).
- Published in:
- 2020
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- Publication type:
- journal article
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2173, doi. 10.1007/s10072-023-06735-7
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- Publication type:
- Article
Permutation entropy to detect vigilance changes and preictal states from scalp EEG in epileptic patients. A preliminary study.
- Published in:
- Neurological Sciences, 2008, v. 29, n. 1, p. 3, doi. 10.1007/s10072-008-0851-3
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- Publication type:
- Article
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant.
- Published in:
- 2023
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- Publication type:
- Case Study
Identification of miRNAs Differentially Expressed in Human Epilepsy with or without Granule Cell Pathology.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105521
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- Publication type:
- Article
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 425, doi. 10.1111/j.1528-1167.2007.01524.x
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- Publication type:
- Article
Adult-Onset Rasmussen's Encephalitis: Anatomical-Electrographic-Clinical Features of 7 Italian Cases.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, p. 41, doi. 10.1111/j.1528-1167.2006.00876.x
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- Publication type:
- Article
Ictal Grasping: Prevalence and Characteristics in Seizures with Different Semiology.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, p. 59, doi. 10.1111/j.1528-1167.2006.00879.x
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- Publication type:
- Article
Cognition and Paroxysmal EEG Activities: From a Single Spike to Electrical Status Epilepticus during Sleep.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, p. 40, doi. 10.1111/j.1528-1167.2006.00686.x
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- Publication type:
- Article
Eye-Closure–Triggered Paroxysmal Activity and Cognitive Impairment: A Case Report.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, p. 115, doi. 10.1111/j.1528-1167.2006.00708.x
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- Publication type:
- Article
Suppressive Efficacy by a Commercially Available Blue Lens on PPR in 610 Photosensitive Epilepsy Patients.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 3, p. 529, doi. 10.1111/j.1528-1167.2006.00463.x
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- Publication type:
- Article
EEG Diagnostic Procedures and Special Investigation in the Assessment of Photosensitivity.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, p. 35, doi. 10.1111/j.0013-9580.2004.451002.x
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- Publication type:
- Article
Ictal Pattern of EEG and Muscular Activation in Symptomatic Infantile Spasms: A Videopolygraphic and Computer Analysis.
- Published in:
- Epilepsia (Series 4), 2002, v. 43, n. 12, p. 1559, doi. 10.1046/j.1528-1157.2002.15302.x
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- Publication type:
- Article
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
- Published in:
- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad182
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- Publication type:
- Article
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00370-z
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- Publication type:
- Article
Standard procedures for the diagnostic pathway of sleep‐related epilepsies and comorbid sleep disorders: A European Academy of Neurology, European Sleep Research Society and International League against Epilepsy‐Europe consensus review.
- Published in:
- Journal of Sleep Research, 2020, v. 29, n. 6, p. 1, doi. 10.1111/jsr.13184
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- Publication type:
- Article
Postprocessing of MRIs Using FreeSurfer in Epilepsy Surgery Patients Provides an Excellent Imaging Marker of Hippocampal Sclerosis but Fails to Separate Subtypes.
- Published in:
- Acta Neurologica Scandinavica, 2023, p. 1, doi. 10.1155/2023/2366355
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- Publication type:
- Article
Negative myoclonus induced by cortical electrical stimulation in epileptic patients.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 1, p. 65, doi. 10.1093/brain/awh661
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- Publication type:
- Article
Perampanel in refractory epilepsies: what real-life experience tells us.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06324-2
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- Publication type:
- Article
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1216653
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- Publication type:
- Article
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
- Published in:
- Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1219262
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- Publication type:
- Article
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1219262
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- Publication type:
- Article
Seizure outcome in surgically treated drug-resistant mesial temporal lobe epilepsy based on the recent histopathological classifications.
- Published in:
- Journal of Neurosurgery, 2013, v. 119, n. 1, p. 37, doi. 10.3171/2013.3.JNS122132
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- Publication type:
- Article
Prediction tools and risk stratification in epilepsy surgery.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 2, p. 414, doi. 10.1111/epi.17851
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- Publication type:
- Article
Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for "deep phenotyping" in genetic epilepsies.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 9, p. 2534, doi. 10.1111/epi.17572
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- Publication type:
- Article
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 8, p. e170, doi. 10.1111/epi.17634
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- Publication type:
- Article
The EpiPick algorithm to select appropriate antiseizure medications in patients with epilepsy: Validation studies and updates.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 1, p. 254, doi. 10.1111/epi.17129
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- Publication type:
- Article
A web‐based algorithm to rapidly classify seizures for the purpose of drug selection.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 10, p. 2474, doi. 10.1111/epi.17039
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- Publication type:
- Article
Optimal choice of antiseizure medication: Agreement among experts and validation of a web‐based decision support application.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 1, p. 220, doi. 10.1111/epi.16763
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- Publication type:
- Article
Genetic testing in adult epilepsy patients: A call to action for clinicians.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 9, p. 2055, doi. 10.1111/epi.16639
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- Publication type:
- Article
A pragmatic algorithm to select appropriate antiseizure medications in patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 8, p. 1668, doi. 10.1111/epi.16610
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- Publication type:
- Article
Utility of genetic testing for therapeutic decision‐making in adults with epilepsy.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1234, doi. 10.1111/epi.16533
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- Publication type:
- Article