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Susanna Negrin

Observed name: Negrin, Susanna
ORCID: 0000-0003-4118-1795
Observed ORCID: 0000-0003-4118-1795
OpenAlex ID: A5007819494
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 · Maria C. Aspromonte, Mariagrazia Bellini, et al. · Human Mutation · 69
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
2020 · Claire Bar, Mathieu Kuchenbuch, et al. · Epilepsia · 43
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Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature
2021 · Paolo Bonanni, Martina Baggio, et al. · Seizure · 16
Electrical status epilepticus during sleep in Mowat–Wilson syndrome
2017 · Paolo Bonanni, Susanna Negrin, et al. · Brain and Development · 14
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
2021 · Emilia Ricci, Anna Fetta, et al. · Epilepsy & Behavior · 13
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2020 · Maria C. Aspromonte, Mariagrazia Bellini, et al. · Human Mutation · 13
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Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study
2021 · Romina Moavero, Alessandra Voci, et al. · Sleep Medicine · 12
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Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene
2021 · Sara Matricardi, Paolo Bonanni, et al. · European Journal of Neurology · 10
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
2025 · Maria Cristina Aspromonte, Alessio Del Conte, et al. · Human Genetics · 8
Epilepsy beyond seizures: embracing a holistic perspective. Proceedings of the 2nd meeting (Episicily) of the epilepsy study group of the Italian Society of neurology
2025 · Angelo Labate, Eleonora Palma, et al. · Epilepsy & Behavior · 5
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Epilepsy in fragile‐X‐syndrome mimicking panayiotopoulos syndrome: Description of three patients
2017 · Paolo Bonanni, Susanna Casellato, et al. · American Journal of Medical Genetics Part A · 3
Clinical implications of interictal epileptiform discharges in cognitive functioning in CEC syndrome with evolution into epileptic encephalopathy
2017 · Paolo Bonanni, Susanna Negrin, et al. · Neurocase · 3
Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study
2026 · Emanuele Cerulli Irelli, Adolfo Mazzeo, et al. · Epilepsia Open · 2
Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients
2023 · Maria Cristina Aspromonte, Alessio Del Conte, et al. · Research Square · 1
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Neuropsicologia dell'epilessia frontale notturna criptogenica in etŕ evolutiva
2012 · Marco Gubernale, Claudia Costantini, et al. · CHILD DEVELOPMENT & DISABILITIES - SAGGI
Neuropsicologia delle encefalopatie epilettiche: analisi delle variabili piů significative e descrizione della nostra esperienza con un gruppo pediatrico affetto da epilessia mioclono-astatica
2012 · Marco Gubernale, Anna Volzone, et al. · CHILD DEVELOPMENT & DISABILITIES - SAGGI
THO16 Selective visual impairment during posterior/diffuse interictal EEG discharges. A psychophysiological and neurophysiological demonstration
2008 · Susanna Negrin, Marco Gubernale, et al. · Clinical Neurophysiology
Works count: 18
Citation count: 212
H-index: 8
I10-index: 8
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