Antonina Fontana
Overview
Explore the profile of Antonina Fontana including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
133
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Recent Articles
1.
Mangano G, Fontana A, Antona V, Salpietro V, Mangano G, Giuffre M, et al.
Mol Genet Genomic Med
. 2022 Mar;
10(5):e1911.
PMID: 35348308
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders....
2.
Mangano G, Antona V, Cali E, Fontana A, Salpietro V, Houlden H, et al.
Seizure
. 2022 Mar;
97:20-22.
PMID: 35278764
The histone demethylase family plays a key role in chromatin structure and gene regulation during development. Mutations in the genes encoding the lysine demethylase 5 (KDM5) were reported in individuals...
3.
Mangano G, Riva A, Fontana A, Salpietro V, Mangano G, Nobile G, et al.
Epilepsy Behav
. 2022 Feb;
129:108604.
PMID: 35217385
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A-D, and GRIN3A-B...
4.
Mangano G, Fontana A, Salpietro V, Antona V, Mangano G, Nardello R
Eur J Med Genet
. 2022 Jan;
65(3):104441.
PMID: 35091116
Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs...
5.
Nardello R, Antona V, Mangano G, Salpietro V, Mangano S, Fontana A
BMC Med Genomics
. 2021 Apr;
14(1):98.
PMID: 33832486
Background: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related...
6.
Nardello R, Mangano G, Antona V, Fontana A, Striano P, Giorgio E, et al.
Seizure
. 2021 Jan;
85:151-154.
PMID: 33476899
No abstract available.
7.
Nardello R, Mangano G, Fontana A, Gagliardo C, Midiri F, Borgia P, et al.
Eur J Med Genet
. 2021 Jan;
64(2):104133.
PMID: 33387673
Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial features, caused by mutation in KMT2A gene, which encodes a...
8.
Nardello R, Mangano G, Miceli F, Fontana A, Piro E, Salpietro V
Epileptic Disord
. 2020 Dec;
22(6):807-810.
PMID: 33337327
Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the...
9.
Nardello R, Plicato G, Mangano G, Gennaro E, Mangano S, Brighina F, et al.
BMC Neurol
. 2020 Apr;
20(1):155.
PMID: 32336275
Background: To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible...
10.
Nardello R, Fontana A, Mangano G, Efthymiou S, Salpietro V, Houlden H, et al.
Epileptic Disord
. 2020 Feb;
22(1):111-115.
PMID: 32031527
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation...