Ennio Del Giudice

University of Naples Federico II — Italy

Medicine · Health Sciences

28h-index3.5kcitations129works2.02yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Epilepsy research and treatment(14), Genetics and Neurodevelopmental Disorders(14), Fetal and Pediatric Neurological Disorders(14), Metabolism and Genetic Disorders(12), Genomic variations and chromosomal abnormalities(12)

Publications126 total

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements
Journal of Clinical Medicine·2024· 2 citedOpen Access
Early anakinra treatment improves cardiac outcome of multisystem inflammatory syndrome in children, regardless of disease severity
Lara D. Veeken·2023· 19 cited
Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment
Minerva Pediatrics·2023
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature
European Journal of Paediatric Neurology·2022· 7 cited
Low‐grade tumour over the left temporal neocortex and ictal asystole: network and surgical implications
Epileptic Disorders·2021· 1 cited
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
The American Journal of Human Genetics·2021· 44 citedOpen Access
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy
European Journal of Paediatric Neurology·2020· 13 cited
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome
Seizure·2020· 17 citedOpen Access
A small 7q11.23 microduplication involving <scp> <i>GTF2I</i> </scp> in a family with intellectual disability
Clinical Genetics·2020· 13 citedOpen Access
Author response for "A small 7q11.23 microduplication involving &lt;i&gt;GTF2I&lt;/i&gt; in a family with intellectual disability"
2020
Expansion of the phenotype of lateral meningocele syndrome
American Journal of Medical Genetics Part A·2020· 12 citedOpen Access
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study
Epilepsy & Behavior·2019· 14 cited
Variants in the degron of <i>AFF3</i> cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
2019Open Access
Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?
Minerva Pediatrica·2019· 2 cited
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
European Journal of Human Genetics·2019· 18 citedOpen Access
Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment
Minerva Pediatrics·2019
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy
Brain·2019· 215 citedOpen Access
P27. The smallest 7Q11.23 duplication encompassing GTF2I and GTF2IRD1 genes in an individual with intellectual disability
Università degli Studi di Salerno·2019Open Access
P29. Glucocorticoid-induced changes in transcription and lymphocytes functionality in Ataxia-Telangiectasia
Università degli Studi di Salerno·2019Open Access
P38. Corpus callosum abnormalities and autism spectrum disorders
Università degli Studi di Salerno·2019Open Access
page 1 of 7Next →

Frequent Co-authors

Alfonso Romano(12), Annamaria Staiano(9), Gaetano Terrone(9), Generoso Andria(9), Gerarda Cappuccio(7), Claudio Pignata(6), Rita Genesio(6), Floriana Imperati(6), Erasmo Miele(5), Luigi Titomanlio(5), Nicola Brunetti‐Pierri(5), Lucio Nitsch(5), Emilia Cirillo(4), Alessandra D’Amico(4), Angela Francesca Crisanti(3), Caterina Strisciuglio(3), Teresa Broccoletti(3), Giuseppina Vitiello(3), Alexandre Reymond(3), Norine Voisin(3)