Paolo Ambrosino
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Explore the profile of Paolo Ambrosino including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Trivisano M, Mosca I, Salimbene L, De Dominicis A, Ambrosino P, Puzo D, et al.
Ann Neurol
. 2025 Feb;
PMID: 39981956
Objective: Gain-of-function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and...
2.
Filareto I, Mosca I, Freri E, Ragona F, Canafoglia L, Solazzi R, et al.
Front Cell Neurosci
. 2025 Feb;
18:1512365.
PMID: 39926415
Variants in genes encoding for voltage-gated K (Kv) channels are frequent cause of drug-resistant pediatric epilepsies. Obtaining a molecular diagnosis gives the opportunity to assess the efficacy of pharmacological strategies...
3.
Iraci N, Carotenuto L, Ciaglia T, Belperio G, Di Matteo F, Mosca I, et al.
J Med Chem
. 2024 May;
67(11):9124-9149.
PMID: 38782404
Gain-of-function (GoF) variants in KCNT1 channels cause severe, drug-resistant forms of epilepsy. Quinidine is a known KCNT1 blocker, but its clinical use is limited due to severe drawbacks. To identify...
4.
Mosca I, Freri E, Ambrosino P, Belperio G, Granata T, Canafoglia L, et al.
Front Cell Neurosci
. 2024 Apr;
18:1367838.
PMID: 38644974
Variants in are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related...
5.
Soldovieri M, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G, et al.
Ann Neurol
. 2023 Nov;
95(2):365-376.
PMID: 37964487
Objective: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies (DEEs). We investigated whether variants in KCNA3, another mammalian homologue of the Drosophila shaker...
6.
Ambrosino P, Ragona F, Mosca I, Vannicola C, Canafoglia L, Solazzi R, et al.
Epilepsia
. 2023 May;
64(7):e148-e155.
PMID: 37203213
Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1...
7.
Cioclu M, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann S, et al.
Ann Neurol
. 2023 Apr;
94(2):332-349.
PMID: 37062836
Objective: Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro...
8.
Falco A, Piscitelli P, Vito D, Pacella F, Franco C, Pulimeno M, et al.
Environ Res
. 2022 Aug;
216(Pt 1):114089.
PMID: 36007572
Several studies have proposed that environmental factors influencing human wellbeing, such as chronic exposures to high levels of particulate matter, could indirectly or even directly affect also the severity of...
9.
Miceli F, Millevert C, Soldovieri M, Mosca I, Ambrosino P, Carotenuto L, et al.
EBioMedicine
. 2022 Jul;
81:104130.
PMID: 35780567
Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with...
10.
Mosca I, Rivolta I, Labalme A, Ambrosino P, Castellotti B, Gellera C, et al.
Front Pharmacol
. 2022 Jun;
13:872645.
PMID: 35770094
Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe...