Luisa Lonoce

Oxidative stress is a central mechanism linking placental dysfunction, fetal injury, and neonatal disease, supporting the concept of a perinatal oxidative stress continuum that begins during abnormal placentation and may persist after birth. This narrative review explores the biological rationale and current experimental and clinical evidence for melatonin as a potential multitarget intervention across this continuum. Melatonin combines direct antioxidant activity with mitochondrial protection, anti-inflammatory and anti-apoptotic effects, and modulation of endogenous antioxidant defenses and redox homeostasis. Evidence from placental, fetal, and neonatal studies suggests potential protective effects in pregnancy complications and in neonatal conditions characterized by oxidative injury, including hypoxic–ischemic encephalopathy, bronchopulmonary dysplasia, necrotizing enterocolitis, neonatal sepsis, and retinopathy of prematurity. The review was informed by a non-systematic search of PubMed/MEDLINE, Scopus, Web of Science and Cochrane Library for relevant literature published up to 2026, including preclinical and clinical studies, systematic reviews, and relevant clinical trial registrations. Overall, although preclinical evidence is encouraging and early clinical studies suggest potential safety and biological activity, translation into clinical practice remains limited by heterogeneous study designs, dosing and timing regimens, and the lack of adequately powered randomized trials. Further research is needed to establish optimal dosing, timing, patient selection, pharmacokinetic–pharmacodynamic relationships, and long-term safety and efficacy.

Background: Neurological symptoms have been reported as extraintestinal manifestations (EIMs) in 3%–10% of children diagnosed with Coeliac disease (CD). Specifically, the prevalence of epilepsy has been reported to be approximately 1% in pediatric patients with CD, and this population shows an increased risk of developing epilepsy. However, there is still no comprehensive review of epidemiological data, seizure semiology, and electroencephalographic findings of epilepsy in pediatric patients with CD. Methods: We conducted a narrative review to provide the most recent data regarding prevalence of epilepsy in CD children, describe the typical seizure semiology reported in literature according to the recent classification of International League Against Epilepsy (ILAE) and illustrate the management of epilepsy in this specific population. Results: Epidemiological data regarding the prevalence of epilepsy in CD children and vice versa are heterogenous due to different inclusion criteria considered in various studies. Overall, an increased risk of epileptic disorder in CD patients has been described in some studies. On the other hand, a higher risk of CD has been reported in children diagnosed with certain types of epileptic disorders [e.g., idiopathic generalized epilepsies]. In terms of seizure semiology, the majority of children with CD present with generalized tonic-clonic seizures or focal seizures, usually of temporal or occipital origin. However, few other patients may experience other types of seizures, such as typical and atypical absences. A subgroup of CD patients presenting with occipital seizures and occipital calcifications on neuroimaging can be diagnosed with CEC syndrome (CD, epilepsy and calcification). A different response to gluten free diet in terms of seizure control has been observed in CD patients. Conclusions: Clinicians should be aware of this possible neurological EIMs of CD in order to facilitate early recognition and refer patients for further investigations when required.

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.