IRIS
MANCARDI, MARIA MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 2.203
Totale 2.203
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Nazione #
IT - Italia 2.203
Totale 2.203
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Città #
Genova 1.190
Genoa 619
Rapallo 362
Vado Ligure 19
Bordighera 13
Totale 2.203
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Nome #
TBC1D24 genotype-phenotype correlation 120
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 117
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia 114
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 106
Robotic-assisted minimally invasive total esophagogastric dissociation for children with severe neurodisability 105
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 104
Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. 102
Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure? 101
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 99
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 98
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 94
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 88
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. 83
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 79
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 64
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 52
CASK related disorder: Epilepsy and developmental outcome 51
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 46
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series 40
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 37
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 36
Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"? 35
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 32
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 31
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 28
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients 28
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 26
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 26
Hemispheric surgery for severe epilepsy in early childhood: a case series 26
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort 24
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 24
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 22
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 21
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 21
Magnetic Resonance-Guided Laser Interstitial Thermal Therapy (MR-gLiTT) in Pediatric Epilepsy Surgery: State of the Art and Presentation of Giannina Gaslini Children's Hospital (Genoa, Italy) Series 21
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study 20
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 19
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 18
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 17
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 15
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children 12
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 11
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 10
Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence 10
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 9
PRENATAL DIAGNOSIS OF CORPUS CAL­ LOSUM AGENESIS WITH ASSOCIATED INTER­ HEMISPHERIC CYSTS: LONG­TERM OUTCOME IN 23 CHILDREN 8
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 8
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 8
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 8
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 6
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 5
Totale 2.285
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Categoria #
all - tutte 9.918
article - articoli 9.918
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.836
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020485 23 14 10 22 48 62 76 44 56 65 45 20
2020/2021266 12 19 14 61 12 5 15 30 11 48 25 14
2021/2022282 29 12 20 16 16 18 11 53 27 38 5 37
2022/2023437 30 44 7 42 53 56 1 40 64 4 84 12
2023/2024524 28 34 34 63 36 98 44 27 16 31 45 68
2024/202576 76 0 0 0 0 0 0 0 0 0 0 0
Totale 2.285