| Nome |
# |
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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations, file fad2ea56-8007-47ee-baa7-c56ace67a28a
|
188
|
|
Brain functional connectivity in sleep-related hypermotor epilepsy, file e1dcb330-bc0d-7715-e053-1705fe0a6cc9
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155
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The landscape of epilepsy-related GATOR1 variants, file e1dcb336-b16b-7715-e053-1705fe0a6cc9
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110
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Clinical features and pathophysiology of disorders of arousal in adults: A window into the sleeping brain, file e1dcb335-71f5-7715-e053-1705fe0a6cc9
|
109
|
|
Definition of miRNAs expression profile in glioblastoma samples: the relevance of non-neoplastic brain reference., file e1dcb32c-410e-7715-e053-1705fe0a6cc9
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105
|
|
Emilia-Romagna Study on Pregnancy and Exposure to Antiepileptic drugs (ESPEA): a population-based study on prescription patterns, pregnancy outcomes and fetal health, file e1dcb331-9448-7715-e053-1705fe0a6cc9
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105
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miRNAs expression analysis in paired fresh/frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time pCR., file e1dcb32c-0ba1-7715-e053-1705fe0a6cc9
|
98
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file 33ae66c6-dec6-4bea-ba0e-f260f2bb92d4
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90
|
|
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, file e1dcb334-a924-7715-e053-1705fe0a6cc9
|
82
|
|
Epilepsy With Auditory Features: From Etiology to Treatment, file e1dcb33a-0f7d-7715-e053-1705fe0a6cc9
|
80
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Treatment with metformin in twelve patients with Lafora disease, file e1dcb332-dd15-7715-e053-1705fe0a6cc9
|
76
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Polygenic burden in focal and generalized epilepsies, file e1dcb336-fbd7-7715-e053-1705fe0a6cc9
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76
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Successful removal and reimplant of vagal nerve stimulator device after 10 yers., file e1dcb334-b93d-7715-e053-1705fe0a6cc9
|
74
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|
Effectiveness of perampanel as the only add-on: Retrospective, multicenter, observational real-life study on epilepsy patients, file 22204547-218f-4fcf-887d-251c30fb8b68
|
73
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|
Brain dysfunction in COVID-19 and CAR-T therapy: cytokine storm-associated encephalopathy, file a0af0c34-3f20-4931-a58c-79068ec07be4
|
69
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Validation Study of Italian Version of Inventory for Déjà Vu Experiences Assessment (I-IDEA): A Screening Tool to Detect Déjà Vu Phenomenon in Italian Healthy Individuals, file e1dcb335-68ab-7715-e053-1705fe0a6cc9
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69
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|
Sleep-related hypermotor epilepsy: Prevalence, impact and management strategies, file e1dcb335-7f33-7715-e053-1705fe0a6cc9
|
69
|
|
Validation Study of Italian Version of Inventory for Déjà Vu Experiences Assessment (I-IDEA): A Screening Tool to Detect Déjà Vu Phenomenon in Italian Healthy Individuals, file e1dcb335-68aa-7715-e053-1705fe0a6cc9
|
68
|
|
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?, file e1dcb336-7c08-7715-e053-1705fe0a6cc9
|
68
|
|
Traduzione e adattamento alla lingua italiana del glossario dei termini più comunemente usati dagli elettroencefalografisti clinici e proposta per il formato del referto EEG (Revisione IFCN 2017), file 29b8acf0-a0e9-43d0-9a3b-6974ada6dab0
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62
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|
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2, file e1dcb333-7cb2-7715-e053-1705fe0a6cc9
|
61
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|
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy, file e1dcb334-ae21-7715-e053-1705fe0a6cc9
|
61
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|
Headache in epilepsy: prevalence and clinical features, file e1dcb335-b7a1-7715-e053-1705fe0a6cc9
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61
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Epilepsy with auditory features: A heterogeneous clinico-molecular disease, file e1dcb32d-a5af-7715-e053-1705fe0a6cc9
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60
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A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies, file e1dcb336-94e8-7715-e053-1705fe0a6cc9
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59
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Incidence of sudden unexpected death in nocturnal frontal lobe epilepsy: a cohort study., file e1dcb338-4a42-7715-e053-1705fe0a6cc9
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59
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3, file e1dcb333-ab16-7715-e053-1705fe0a6cc9
|
57
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|
Risk of hospitalization and death for COVID-19 in persons with epilepsy over a 20-month period: The EpiLink Bologna cohort, Italy, file 8e9fe5d5-8c6d-4613-8781-e7e476f979e7
|
56
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Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy, file e1dcb339-d07a-7715-e053-1705fe0a6cc9
|
50
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Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients, file e1dcb337-9fe6-7715-e053-1705fe0a6cc9
|
46
|
|
Definition and diagnostic criteria of sleep-related hypermotor epilepsy, file e1dcb338-7efb-7715-e053-1705fe0a6cc9
|
42
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Akinetic mutism in COVID-19-related encephalopathy: A cytokine-mediated maladaptive sickness behavioral response?, file d4a974f2-b13a-455c-9374-f3fda52a0204
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35
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Cognitive and functional connectivity impairment in post-COVID-19 olfactory dysfunction, file 8d4af553-85b5-4fb6-b58a-c1630b4ee34f
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32
|
|
A case of clinical worsening after stereo-electroencephalographic-guided radiofrequency thermocoagulation in a patient with polymicrogyria, file a9ae8972-98b4-4c28-a333-a5ae46d299fb
|
30
|
|
null, file e1dcb338-390d-7715-e053-1705fe0a6cc9
|
29
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Postictal Psychosis in Epilepsy: A Clinicogenetic Study, file 3c090c1c-2655-4e11-bbc8-73999e354c81
|
25
|
|
FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease, file 22b39659-b87e-4487-af60-75443c383d0b
|
22
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|
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, file e1dcb334-a925-7715-e053-1705fe0a6cc9
|
21
|
|
Interrater agreement of classification of photoparoxysmal electroencephalographic response, file 6c3bad12-97b6-4697-b8da-fd32b18614e1
|
20
|
|
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency, file 7da7b206-53f5-41a9-96ab-b4d1aa4792a6
|
20
|
|
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis, file 0bad55e2-bf5e-4cd2-96ec-1e583bf8898e
|
18
|
|
Videopolygraphic and functional MRI study of musicogenic epilepsy. A case report and literature review., file e1dcb32f-2d6c-7715-e053-1705fe0a6cc9
|
18
|
|
Encephalopathy in COVID-19 Presenting With Acute Aphasia Mimicking Stroke, file d6528c16-829c-4b38-a4e8-40d3954ce631
|
17
|
|
MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution, file dcc7b336-3ef5-4774-b479-c2c79b33b9fd
|
16
|
|
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file b34a4590-1adb-429a-a236-7032a4b5927a
|
15
|
|
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants, file 8e557e1d-a3ed-49cd-8b47-fe43ff21ba12
|
13
|
|
Intravenous immunoglobulin therapy in COVID-19-related encephalopathy, file c1d8049c-1ec9-4ad8-9b63-86ac9fcb2391
|
12
|
|
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23)., file e1dcb32f-2ccf-7715-e053-1705fe0a6cc9
|
10
|
|
Distinct gene-set burden patterns underlie common generalized and focal epilepsies, file 8b86a567-bb6b-41f7-9e7f-def4e851803c
|
9
|
|
Encephalopathy in COVID-19 Presenting With Acute Aphasia Mimicking Stroke, file a3e5cd9f-e33e-4ca5-bd95-52b8eeac2b7e
|
9
|
|
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy, file abbcac98-9861-4d30-8566-19903ba80abc
|
9
|
|
The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective, file ea850707-083a-478b-ba7e-d498f47759e5
|
9
|
|
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome, file ed40df08-de7c-4b5b-9d86-0e20a1816256
|
9
|
|
Neurological Manifestations of Long {COVID}: A Single-Center One-Year Experience, file 0d2fd104-790a-4b23-bb2f-a6114ee3777e
|
8
|
|
If seizures left speechless: CA-P-S C-A-R-E, a proposal of a new ictal language evaluation protocol, file 57ca5e31-c975-4672-8d8b-68291218ff88
|
7
|
|
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy, file 6dc5789b-4ecf-4426-8232-ce072507573e
|
7
|
|
Definition and diagnostic criteria of sleep-related hypermotor epilepsy, file e1dcb338-5a55-7715-e053-1705fe0a6cc9
|
7
|
|
TELEmedicine for EPIlepsy Care (TELE-EPIC): Protocol of a randomised, open controlled non-inferiority clinical trial, file e7f7547d-e977-45c4-87f7-11c8d15623bd
|
7
|
|
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations, file 2a4f828b-eab1-44aa-b7aa-2cf3329d65f7
|
5
|
|
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency, file 2c153129-3c22-4da1-b6b2-cfde15d6c0e5
|
4
|
|
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome, file 67130af0-9795-4565-91e0-908700adbb4a
|
4
|
|
Risk of hospitalization and death for COVID-19 in persons with epilepsy over a 20-month period: The EpiLink Bologna cohort, Italy, file a7b27fff-aa5b-4620-834d-63dddd651d0e
|
4
|
|
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep, file c70040e2-43dc-4f02-9eef-b77e4cab5b94
|
4
|
|
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data, file b7ce3317-e682-46bb-ba26-5ff82ca5ab32
|
3
|
|
Musicogenic epilepsy: can the emotional components of music trigger the seizures?, file e1dcb32c-2c42-7715-e053-1705fe0a6cc9
|
3
|
|
Epilepsy with auditory features: A heterogeneous clinico-molecular disease, file e1dcb335-7a63-7715-e053-1705fe0a6cc9
|
3
|
|
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3, file e1dcb335-7c40-7715-e053-1705fe0a6cc9
|
3
|
|
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals, file 1aee41d1-55a1-4d75-b1af-88f58d9759e3
|
2
|
|
The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective, file 3eb057f3-62d9-4e21-8b8a-f1c1ac2963c0
|
2
|
|
If seizures left speechless: CA-P-S C-A-R-E, a proposal of a new ictal language evaluation protocol, file a9f463b3-acb5-4611-bb75-f0c6251888de
|
2
|
|
TELEmedicine for EPIlepsy Care (TELE-EPIC): Protocol of a randomised, open controlled non-inferiority clinical trial, file b5741daa-e356-4d46-98c6-237336c7f751
|
2
|
|
Polysomnographic features differentiating disorder of arousals from sleep-related hypermotor epilepsy, file e1dcb333-7712-7715-e053-1705fe0a6cc9
|
2
|
|
Cognitive and functional connectivity impairment in post-COVID-19 olfactory dysfunction, file 25f76942-272c-40c7-9c31-cca38e5aa019
|
1
|
|
Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort, file 3038686d-8d54-4cd5-bf6d-d9e64f892d3c
|
1
|
|
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file 304c2e0a-8a52-4554-8c65-5c4690ec1d5a
|
1
|
|
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group, file 64836a4b-8678-4605-b4e0-f270713a4f7c
|
1
|
|
Effectiveness of perampanel as the only add-on: Retrospective, multicenter, observational real-life study on epilepsy patients, file 66561167-8396-4ecb-b3a8-78fa159c0c31
|
1
|
|
Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort, file 96445299-5f95-4084-8ed5-a4a2765206d9
|
1
|
|
Distinct gene-set burden patterns underlie common generalized and focal epilepsies, file 97eddea2-47bc-48ee-a7a3-a20ec4b730e3
|
1
|
|
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease, file af04e759-fc33-4f72-b0b7-37b21b583666
|
1
|
|
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5, file b0d9e32c-c953-4335-b1a4-bf760bc671c3
|
1
|
|
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture, file c1bc4376-8fa4-4b7f-93c1-0b53b2a17994
|
1
|
|
Proton MR spectroscopy in patients with sleep-related hypermotor epilepsy (SHE): Evidence of altered cingulate cortex metabolism, file e1dcb330-9807-7715-e053-1705fe0a6cc9
|
1
|
|
Epilepsy and Sleep: Close Connections and Reciprocal Influences, file e1dcb330-b3e1-7715-e053-1705fe0a6cc9
|
1
|
|
Antiepileptic drugs and intrauterine death: A prospective observational study from EURAP, file e1dcb330-efa3-7715-e053-1705fe0a6cc9
|
1
|
|
Dose-dependent teratogenicity of valproate in mono- and polytherapy: an observational study, file e1dcb330-f5d7-7715-e053-1705fe0a6cc9
|
1
|
|
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2, file e1dcb335-7efd-7715-e053-1705fe0a6cc9
|
1
|
|
Intravenous immunoglobulin therapy in COVID-19-related encephalopathy, file e1dcb336-5b46-7715-e053-1705fe0a6cc9
|
1
|
| Totale |
2.931 |