B Dalla Bernardina
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Explore the profile of B Dalla Bernardina including associated specialties, affiliations and a list of published articles.
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74
Citations
772
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Recent Articles
1.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, et al.
Epilepsy Behav
. 2023 Mar;
142:109153.
PMID: 36989566
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). Comorbidities associated with this end...
2.
Nott E, Behl K, Brambilla I, Green T, Lucente M, Vavassori R, et al.
Eur J Med Genet
. 2023 Jan;
66(3):104680.
PMID: 36623768
No abstract available.
3.
Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, et al.
Acta Neurol Scand
. 2018 Jan;
137(6):575-581.
PMID: 29363096
Objective: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. Material And Methods: The electroclinical data of 45 patients (25 males)...
4.
Pellegrin S, Cantalupo G, Opri R, Dalla Bernardina B, Darra F
Eur J Paediatr Neurol
. 2017 Jan;
21(3):580-582.
PMID: 28129950
Background: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as...
5.
Agostinelli S, Traverso M, Accorsi P, Beccaria F, Belcastro V, Capovilla G, et al.
Eur J Neurol
. 2012 Oct;
20(5):856-9.
PMID: 23020086
Background And Purposes: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between...
6.
Terracciano A, Specchio N, Darra F, Sferra A, Dalla Bernardina B, Vigevano F, et al.
Neurogenetics
. 2012 Sep;
13(4):341-5.
PMID: 22949144
The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for...
7.
Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, et al.
Am J Med Genet A
. 2010 Nov;
152A(12):3133-7.
PMID: 21108397
Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length...
8.
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, et al.
Clin Genet
. 2010 Apr;
78(5):471-7.
PMID: 20412115
Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR), stereotypic movements, epilepsy and cerebral malformations. Further delineation of a critical region of...
9.
Artuso R, Mencarelli M, Polli R, Sartori S, Ariani F, Pollazzon M, et al.
Brain Dev
. 2009 Apr;
32(1):17-24.
PMID: 19362436
Background: Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused...
10.
Moro F, Pisano T, Dalla Bernardina B, Polli R, Murgia A, Zoccante L, et al.
Neurology
. 2006 Aug;
67(4):713-5.
PMID: 16924033
The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene...