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Elena Gennaro

Explore the profile of Elena Gennaro including associated specialties, affiliations and a list of published articles. Areas
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Articles 42
Citations 526
Followers 0
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Recent Articles
1.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, et al.
Neurol Genet . 2022 Jun; 8(3):e676. PMID: 35655584
Background And Objectives: Clinical manifestations in developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in...
2.
Piccolo B, Gennaro E, Pisani F
Acta Neurol Belg . 2021 Oct; 122(6):1653-1656. PMID: 34609735
No abstract available.
3.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, dOrsi G, et al.
J Neurol Sci . 2021 Mar; 424:117409. PMID: 33773408
Background: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen...
4.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, et al.
Neurol Genet . 2021 Mar; 6(6):e528. PMID: 33659638
Objective: Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with...
5.
Alagia M, Bernardo P, Genesio R, Gennaro E, Brunetti-Pierri N, Coppola A, et al.
Neurol Sci . 2020 Nov; 42(5):2115-2117. PMID: 33201365
No abstract available.
6.
Terrone G, Marchese F, Vari M, Severino M, Madia F, Amadori E, et al.
Seizure . 2020 May; 79:53-55. PMID: 32416568
No abstract available.
7.
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...
8.
Castagnetta M, Pfeffer U, Chiesa A, Gennaro E, Cecconi M, Coviello D, et al.
Methods Mol Biol . 2019 Oct; 2065:191-197. PMID: 31578696
Individual age is a phenotypic trait that provides useful information not only in forensic investigations but also in the aging research which is becoming an urgent call due to the...
9.
Piro E, Nardello R, Gennaro E, Fontana A, Taglialatela M, Mangano G, et al.
Epileptic Disord . 2019 Feb; 21(1):87-91. PMID: 30782577
Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal...
10.
von Stulpnagel C, Hartlieb T, Borggrafe I, Coppola A, Gennaro E, Eschermann K, et al.
Seizure . 2019 Jan; 65:131-137. PMID: 30685520
Purpose: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1...