| Nome |
# |
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Epilepsy in adult patients with Down syndrome : a clinical-video EEG study, file dfa8b990-b696-748b-e053-3a05fe0a3a96
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1795
|
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Rett networked database : an integrated clinical and genetic network of Rett syndrome databases, file dfa8b990-bdeb-748b-e053-3a05fe0a3a96
|
1759
|
|
Ring chromosome 20, file dfa8b990-c6f5-748b-e053-3a05fe0a3a96
|
1483
|
|
A new Italian instrument for the assessment of irritability in patients with epilepsy, file dfa8b990-854c-748b-e053-3a05fe0a3a96
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1360
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|
Epilepsy in Rett syndrome : clinical and genetic features, file dfa8b990-b7ae-748b-e053-3a05fe0a3a96
|
746
|
|
Ictal EEG patterns in epilepsy with centro-temporal spikes, file dfa8b990-c171-748b-e053-3a05fe0a3a96
|
669
|
|
Rett Syndrome and Other Neurodevelopmental Disorders Share Common Changes in Gut Microbial Community : a Descriptive Review, file dfa8b99f-e2d7-748b-e053-3a05fe0a3a96
|
614
|
|
Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua : a European survey and analysis of 65 cases, file dfa8b990-bbe2-748b-e053-3a05fe0a3a96
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488
|
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Medical care of adolescents and women with Rett syndrome : an Italian study, file dfa8b990-be64-748b-e053-3a05fe0a3a96
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470
|
|
A clinical and genetic study of 33 new cases with early-onset absence epilepsy, file dfa8b990-be65-748b-e053-3a05fe0a3a96
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457
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|
Early-onset absence epilepsy : SLC2A1 gene analysis and treatment evolution, file dfa8b990-b27c-748b-e053-3a05fe0a3a96
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454
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|
Dreaming experience as a useful diagnostic clue for syncopal episodes, file dfa8b990-bdee-748b-e053-3a05fe0a3a96
|
426
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Familial Ohtahara syndrome due to a novel ARX gene mutation, file dfa8b990-b734-748b-e053-3a05fe0a3a96
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350
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|
Focal epilepsies in adult patients attending two epilepsy centers : classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs, file dfa8b990-bda5-748b-e053-3a05fe0a3a96
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277
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Ictal involvement of the nigrostriatal system in subtle seizures of ring chromosome 20 epilepsy, file dfa8b990-c6f3-748b-e053-3a05fe0a3a96
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248
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The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy, file dfa8b994-d395-748b-e053-3a05fe0a3a96
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204
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|
Sleep in ring chromosome 20 syndrome : a peculiar electroencephalographic pattern, file dfa8b990-b86a-748b-e053-3a05fe0a3a96
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186
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|
Aggressive behavior and epilepsy : a multicenter study, file dfa8b990-bded-748b-e053-3a05fe0a3a96
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183
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Rett Syndrome : a Focus on Gut Microbiota, file dfa8b998-0d8b-748b-e053-3a05fe0a3a96
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179
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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome, file dfa8b990-b74b-748b-e053-3a05fe0a3a96
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160
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Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers, file dfa8b994-e50c-748b-e053-3a05fe0a3a96
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151
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|
Analysis of the Phenotypes in the Rett Networked Database, file dfa8b99e-5f06-748b-e053-3a05fe0a3a96
|
135
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Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes, file dfa8b9a5-194f-748b-e053-3a05fe0a3a96
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120
|
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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, file dfa8b99e-997a-748b-e053-3a05fe0a3a96
|
115
|
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Patients with epilepsy and patients with psychogenic non-epileptic seizures : video-EEG, clinical and neuropsychological evaluation, file dfa8b990-b727-748b-e053-3a05fe0a3a96
|
112
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Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy, file dfa8b9a3-30c4-748b-e053-3a05fe0a3a96
|
109
|
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Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes, file dfa8b9a0-600a-748b-e053-3a05fe0a3a96
|
102
|
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Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes, file dfa8b9a0-3551-748b-e053-3a05fe0a3a96
|
97
|
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Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition, file dfa8b9a3-e1cc-748b-e053-3a05fe0a3a96
|
82
|
|
Epilepsy in adult patients with tuberous sclerosis complex, file dfa8b9a6-0a6b-748b-e053-3a05fe0a3a96
|
80
|
|
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background, file dfa8b9a2-7b62-748b-e053-3a05fe0a3a96
|
74
|
|
Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study, file 979cdc04-d97a-41ab-bef1-ab5dd77dc711
|
71
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SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome, file dfa8b9a6-7cf1-748b-e053-3a05fe0a3a96
|
70
|
|
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1, file dfa8b9a4-908e-748b-e053-3a05fe0a3a96
|
69
|
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Effects of combined Transcranial direct current stimulation with cognitive training in girls with Rett syndrome, file dfa8b9a2-4e20-748b-e053-3a05fe0a3a96
|
64
|
|
Epilepsy in TSC : certain etiology does not mean certain prognosis, file dfa8b990-e74f-748b-e053-3a05fe0a3a96
|
63
|
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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies, file dfa8b9a6-ae9f-748b-e053-3a05fe0a3a96
|
63
|
|
Is Gut Microbiota a Key Player in Epilepsy Onset? A Longitudinal Study in Drug-Naive Children, file dfa8b9a9-29fd-748b-e053-3a05fe0a3a96
|
60
|
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Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome, file dfa8b990-b796-748b-e053-3a05fe0a3a96
|
58
|
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Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures?, file dfa8b99b-38e0-748b-e053-3a05fe0a3a96
|
56
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Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST), file dfa8b9a9-b152-748b-e053-3a05fe0a3a96
|
47
|
|
Sleep in children with Pallister Killian Syndrome : a prospective clinical and videopolysomnographic study, file dfa8b9a9-c788-748b-e053-3a05fe0a3a96
|
29
|
|
Epilepsy Course and Developmental Trajectories in STXBP1-DEE, file 848d2234-1fe0-4eff-b9e0-9a5d7367998a
|
17
|
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Exploring dopaminergic activity in ring chromosome 20 syndrome : a SPECT study, file dfa8b990-b74c-748b-e053-3a05fe0a3a96
|
17
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Parents' satisfaction of tele-rehabilitation for children with neurodevelopmental disabilities during the COVID-19 pandemic, file 42d4b255-c32f-4a5d-b57a-ae70b8fa34ff
|
12
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Epilepsy with onset within 3 years of age : electroclinical characterization and long term outcome, file dfa8b991-3c2a-748b-e053-3a05fe0a3a96
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11
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Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy, file dfa8b991-42ce-748b-e053-3a05fe0a3a96
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9
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Disturbi di personalità in pazienti con epilessia vs pazienti con crisi psicogene non epilettiche, file dfa8b990-510a-748b-e053-3a05fe0a3a96
|
8
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|
Disfunzione dopaminergica con caratteristiche simili in pazienti con sindrome del cromosoma 20 ad anello ed epilessia temporale : studio pre e post-sinaptico mediante SPECT, file dfa8b990-fb14-748b-e053-3a05fe0a3a96
|
8
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|
Blood oxidative stress and metallothionein expression in Rett syndrome : probing for markers, file dfa8b994-cc1b-748b-e053-3a05fe0a3a96
|
8
|
|
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature, file dfa8b997-b9e5-748b-e053-3a05fe0a3a96
|
8
|
|
KMT2A : umbrella gene for multiple diseases, file 1f4053cf-7510-4af2-b4ad-fb00c3848030
|
7
|
|
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature, file dfa8b995-01dc-748b-e053-3a05fe0a3a96
|
7
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Laryngeal motility alteration : a missing link between sleep apnea and vagus nerve stimulation for epilepsy, file dfa8b995-01dd-748b-e053-3a05fe0a3a96
|
7
|
|
Do patients with tuberous sclerosis complex have an increased risk for malignancies?, file dfa8b996-02fa-748b-e053-3a05fe0a3a96
|
7
|
|
KIR2DS1-HLA-C2 complexes and HLA-G14BP insertion polymorphism associate with behavioral impairments in autistic spectrum disorders (ASD), file dfa8b997-e44a-748b-e053-3a05fe0a3a96
|
7
|
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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex, file dfa8b99c-884f-748b-e053-3a05fe0a3a96
|
7
|
|
Long-term analysis of the effects of COVID-19 in people with epilepsy: Results from a multicenter on-line survey across the pandemic waves, file 7d7b551a-dcf3-430d-80a3-ffc2753ca890
|
6
|
|
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study, file c955ab07-ff7c-49b8-83b9-4939a885359b
|
6
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Neuropsychological outcomes in adults with tuberous sclerosis complex, file dfa8b98f-332d-748b-e053-3a05fe0a3a96
|
6
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L'epilessia nella sindrome di Rett, file dfa8b990-510c-748b-e053-3a05fe0a3a96
|
6
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Effects of chronic administration of valproic acid to epileptic patients on coagulation tests and primary hemostasis, file dfa8b995-9467-748b-e053-3a05fe0a3a96
|
6
|
|
Epilepsy in adult patients with tuberous sclerosis complex, file dfa8b9a8-90e3-748b-e053-3a05fe0a3a96
|
6
|
|
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome, file dfa8b9a8-f06b-748b-e053-3a05fe0a3a96
|
6
|
|
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood, file dec0cc71-4308-41a9-acb6-eefa0c6460c8
|
5
|
|
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study, file dfa8b991-0eaf-748b-e053-3a05fe0a3a96
|
5
|
|
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome, file dfa8b992-3152-748b-e053-3a05fe0a3a96
|
5
|
|
Sudden unexpected death in epilepsy (SUDEP) disclosure in pediatric epilepsy : an Italian survey on “to tell or not to tell”, file dfa8b997-5ba1-748b-e053-3a05fe0a3a96
|
5
|
|
The contribution of microbiology to neuroscience: More complex than it seems?, file dfa8b9a0-0642-748b-e053-3a05fe0a3a96
|
5
|
|
Different circuitry dysfunction in drug-naive patients with juvenile myoclonic epilepsy and juvenile absence epilepsy, file dfa8b9a9-7f33-748b-e053-3a05fe0a3a96
|
5
|
|
Zonisamide, peso corporeo e aspetti comportamentali, file dfa8b990-5108-748b-e053-3a05fe0a3a96
|
4
|
|
The visual system in eyelid myoclonia with absences, file dfa8b991-a75c-748b-e053-3a05fe0a3a96
|
4
|
|
Antiepileptic drugs in Rett syndrome, file dfa8b992-2d76-748b-e053-3a05fe0a3a96
|
4
|
|
Glioblastoma multiforme in a child with tuberous sclerosis complex, file dfa8b993-1244-748b-e053-3a05fe0a3a96
|
4
|
|
Sleep disorders in Cornelia de Lange syndrome, file dfa8b997-e28d-748b-e053-3a05fe0a3a96
|
4
|
|
The role of laryngeal electromyography in vagus nerve stimulation-related vocal fold dysmotility, file dfa8b998-55fd-748b-e053-3a05fe0a3a96
|
4
|
|
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome, file dfa8b998-5aae-748b-e053-3a05fe0a3a96
|
4
|
|
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2, file dfa8b99b-553a-748b-e053-3a05fe0a3a96
|
4
|
|
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures, file dfa8b99c-dfa8-748b-e053-3a05fe0a3a96
|
4
|
|
Effects of postpartum depression on the behaviour of children born to mothers with epilepsy, file dfa8b9a0-5bc9-748b-e053-3a05fe0a3a96
|
4
|
|
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants, file 323e4532-a6f2-4b81-bbe6-e527a2d8ea50
|
3
|
|
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome, file dfa8b994-d44e-748b-e053-3a05fe0a3a96
|
3
|
|
Dramatic relapse of seizures after everolimus withdrawal, file dfa8b999-a1ff-748b-e053-3a05fe0a3a96
|
3
|
|
Rhinencephalon changes in tuberous sclerosis complex, file dfa8b99c-8408-748b-e053-3a05fe0a3a96
|
3
|
|
Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex : more insights into their pathogenesis, file dfa8b99c-a473-748b-e053-3a05fe0a3a96
|
3
|
|
Vaccination and Occurrence of Seizures in SCN1A Mutation–Positive Patients : a Multicenter Italian Study, file dfa8b99f-1851-748b-e053-3a05fe0a3a96
|
3
|
|
Living with Epilepsy in Adolescence in Italy: Psychological and Behavioral Impact, file 92e1e0c6-3ed0-4d32-96ce-8884c5561eb2
|
2
|
|
Perinatal outcome and healthcare resource utilization in the first year of life after antiepileptic exposure during pregnancy, file dfa8b99d-b614-748b-e053-3a05fe0a3a96
|
2
|
|
Vaccination and Occurrence of Seizures in SCN1A Mutation–Positive Patients : a Multicenter Italian Study, file dfa8b99f-eeee-748b-e053-3a05fe0a3a96
|
2
|
|
Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex, file dfa8b9a0-1efb-748b-e053-3a05fe0a3a96
|
2
|
|
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients, file dfa8b9a3-ee80-748b-e053-3a05fe0a3a96
|
2
|
|
Current concepts on epilepsy management in tuberous sclerosis complex, file dfa8b9a4-3635-748b-e053-3a05fe0a3a96
|
2
|
|
Spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study, file cab7cdd3-1800-4934-8a0a-3c7923c08d21
|
1
|
|
Clinical dissection of early onset absence epilepsy in children and prognostic implications, file dfa8b990-e313-748b-e053-3a05fe0a3a96
|
1
|
|
Spatio-temporal features of rhythmic cortical activity in epilepsy due to chromosome ring 20, file dfa8b990-e315-748b-e053-3a05fe0a3a96
|
1
|
|
Frontal cognitive dysfunction in juvenile myoclonic epilepsy, file dfa8b991-3c57-748b-e053-3a05fe0a3a96
|
1
|
|
Felbamate in refractory partial epilepsy, file dfa8b991-3d04-748b-e053-3a05fe0a3a96
|
1
|
|
Chromosome 20 ring : a chromosomal disorder associated with a particular electroclinical pattern, file dfa8b991-3d11-748b-e053-3a05fe0a3a96
|
1
|
|
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome, file dfa8b992-2d78-748b-e053-3a05fe0a3a96
|
1
|
|
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy., file dfa8b993-34d1-748b-e053-3a05fe0a3a96
|
1
|
| Totale |
14625 |