Samanta Carbone

Dr. Samanta Carbone


Research Focus & Metrics

Academic Career Length

3Years (2024-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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20 January 2025 in Neurology International
Verified
Journal Article
Open access
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MMMichele Minerva
Michele Minerva
LPLorenzo Perilli
Lorenzo Perilli
SCSamanta Carbone
Samanta Carbone
MRMargherita Maria Rossi
Margherita Maria Rossi
FLFederica Lotti
Federica Lotti
SGSalvatore Grosso
Salvatore Grosso
Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach. Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic–clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant.

29 April 2024 in Journal of Clinical Medicine
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Journal Article
Open access
PDF file
LPLorenzo Perilli
Lorenzo Perilli
SCSamanta Carbone
Samanta Carbone
LNLuca Franco Novelletto
Luca Franco Novelletto
ASAndrea Santangelo
Andrea Santangelo
MCMaria Rosaria Curcio
Maria Rosaria Curcio
SGSalvatore Grosso
Salvatore Grosso
Recurrent headaches, encompassing migraine and tension-type headaches, represent prevalent conditions affecting individuals across different age groups, exerting a substantial influence on daily functioning and quality of life. Headaches serve as common manifestations of underlying health issues. Among these, celiac disease, an autoimmune disorder activated by gluten consumption, has emerged as a noteworthy concern. Recent research indicates a correlation between celiac disease and heightened susceptibility to headaches, particularly migraines. Celiac disease (CD) is an immune-mediated systemic, widespread disorder presenting a heterogeneous constellation of symptoms with a relatively easy diagnosis and therapy. Among signs and symptoms exhibited in celiac disease patients, headache is one of the most common neurological issues addressed among both adults and children. Headache disorders and CD are highly prevalent in the general population; for this reason, any causal association between these conditions and the role of a gluten-free diet (GFD) has been debated. The aim of this manuscript is to review the current scientific literature regarding the potential association between CD and headaches and the beneficial effects of a GFD. Among the various authors, in our opinion, the current state of the evidence suggests a significant role for the early screening of CD during the initial diagnosis of recurrent headaches, either in adults or children.