Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

E. Gennaro · SciRah

Researcher profile · Semantic Scholar

E. Gennaro

Share profile

E. Gennaro — researcher profile on SciRah

h-index: 24
Works: 48
Citations: 1,951

Most-cited papers

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C. Marini, I. Scheffer, R. Nabbout, D. Mei +22 more
2009Epilepsia179 citations Open access
Semantic Scholar
Genome search for susceptibility loci of common idiopathic generalised epilepsies.
T. Sander, H. Schulz, K. Saar, E. Gennaro +22 more
2000Human Molecular Genetics167 citations Open access
Semantic Scholar
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
F. Zara, N. Specchio, P. Striano, A. Robbiano +28 more
2013Epilepsia124 citations Open access
Semantic Scholar
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy
P. Striano, A. Coppola, M. Pezzella, C. Ciampa +17 more
2007Neurology115 citations
Semantic Scholar
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
E. Gennaro, F. Santorelli, E. Bertini, D. Buti +12 more
2006Biochemical and Biophysical Research Communications - BBRC112 citations
Semantic Scholar
Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.
F. Ragona, Daniela Brazzo, I. De Giorgi, M. Morbi +7 more
2010Brain & development (Tokyo. 1979)111 citations
Semantic Scholar
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations
P. Striano, M. Mancardi, R. Biancheri, F. Madia +26 more
2007Epilepsia88 citations
Semantic Scholar
Pitfalls in genetic testing: the story of missed SCN1A mutations
T. Djémié, S. Weckhuysen, S. von Spiczak, G. Carvill +42 more
2016Molecular Genetics & Genomic Medicine82 citations Open access
Semantic Scholar
Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease
S. Franceschetti, A. Gambardella, L. Canafoglia, P. Striano +16 more
2006Epilepsia78 citations Open access
Semantic Scholar
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
R. Dilena, P. Striano, E. Gennaro, L. Bassi +6 more
2017Brain & development (Tokyo. 1979)72 citations
Semantic Scholar
Late‐onset and Slow‐progressing Lafora Disease in Four Siblings with EPM2B Mutation
B. Baykan, P. Striano, Stefania Gianotti, N. Bebek +3 more
2005Epilepsia68 citations Open access
Semantic Scholar
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy
R. Dilena, J. DiFrancesco, M. V. Soldovieri, Antonella Giacobbe +16 more
2018Neurotherapeutics65 citations Open access
Semantic Scholar
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations
Maria Margherita Mancardi, P. Striano, E. Gennaro, F. Madia +22 more
2006Epilepsia58 citations Open access
Semantic Scholar
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
M. Grasso, E. Boon, S. Filipovic-Sadic, Patrick A. van Bunderen +5 more
2014Journal of Molecular Diagnostics52 citations Open access
Semantic Scholar
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.
F. Nicita, P. De Liso, Federica Rachele Danti, L. Papetti +7 more
2012Seizure51 citations Open access
Semantic Scholar
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.
E. Gennaro, P. Veggiotti, M. Malacarne, F. Madia +8 more
2003Epileptic disorders50 citations
Semantic Scholar
Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
C. von Stülpnagel, T. Hartlieb, I. Borggräfe, A. Coppola +13 more
2019Seizure44 citations Open access
Semantic Scholar
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
E. Ferlazzo, L. Canafoglia, R. Michelucci, A. Gambardella +17 more
2014Epilepsia36 citations Open access
Semantic Scholar
Electroclinical presentation and genotype–phenotype relationships in patients with Unverricht‐Lundborg disease carrying compound heterozygous CSTB point and indel mutations
L. Canafoglia, E. Gennaro, G. Capovilla, G. Gobbi +11 more
2012Epilepsia36 citations
Semantic Scholar
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
G. Balagura, J. Xian, A. Riva, Francesca Marchese +54 more
2022Neurology: Genetics34 citations Open access
Semantic Scholar
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.
L. Canafoglia, C. Ciano, E. Visani, P. Anversa +6 more
2010Epilepsy Research31 citations
Semantic Scholar
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Federica Malerba, Giulio Alberini, G. Balagura, Francesca Marchese +36 more
2020Neurology: Genetics30 citations Open access
Semantic Scholar
Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families
P. Striano, Maria Luisa Lispi, E. Gennaro, F. Madia +22 more
2006Epilepsia25 citations Open access
Semantic Scholar
No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1
E. Gennaro, M. Malacarne, I. Carbone, M. C. Riggio +14 more
1999Epilepsia25 citations Open access
Semantic Scholar
Lack of SCN1A Mutations in Familial Febrile Seizures
M. Malacarne, F. Madia, E. Gennaro, Daniela Vacca +18 more
2002Epilepsia23 citations Open access
Semantic Scholar
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant
R. Nardello, Giorgia Plicato, G. Mangano, E. Gennaro +4 more
2020BMC Neurology22 citations Open access
Semantic Scholar
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
F. Madia, E. Gennaro, M. Cecconi, D. Buti +19 more
2003Epilepsy Research20 citations
Semantic Scholar
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
A. Riva, A. Orsini, M. Scala, Vittoria Taramasso +28 more
2021Journal of Neurological Sciences15 citations Open access
Semantic Scholar
CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation.
P. Bernardo, D. Galletta, F. Iasevoli, L. D'Ambrosio +6 more
2017Seizure15 citations Open access
Semantic Scholar
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
V. Gatta, E. Gennaro, S. Franchi, M. Cecconi +6 more
2013BMC Medical Genetics15 citations Open access
Semantic Scholar
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.
E. Piro, R. Nardello, E. Gennaro, Antonina Fontana +4 more
2019Epileptic disorders14 citations Open access
Semantic Scholar
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
G. Terrone, Francesca Marchese, M. S. Vari, M. Severino +7 more
2020Seizure13 citations Open access
Semantic Scholar
A novel c132‐134del mutation in Unverricht‐Lundborg disease and the review of literature of heterozygous compound patients
G. Assenza, A. Benvenga, E. Gennaro, M. Tombini +4 more
2017Epilepsia13 citations
Semantic Scholar
FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
E. Fernandez, E. Gennaro, F. Pirozzi, C. Baldo +7 more
2018Frontiers in Genetics12 citations Open access
Semantic Scholar
Genotype-Phenotype Correlations in a Group of 15 SCN1A-Mutated Italian Patients with GEFS+ Spectrum (Seizures plus, Classical and Borderline Severe Myoclonic Epilepsy of Infancy)
F. Nicita, A. Spalice, L. Papetti, F. Ursitti +4 more
2010Journal of Child Neurology12 citations
Semantic Scholar
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study.
D. Cordelli, Anna Aldrovandi, V. Gentile, C. Garone +5 more
2012Seizure11 citations Open access
Semantic Scholar
Exploration of a Putative Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 8p12
T. Sander, C. Windemuth, H. Schulz, K. Saar +23 more
2003Epilepsia8 citations Open access
Semantic Scholar
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
M. T. Ricci, L. Pennese, V. Gismondi, C. Perfumo +4 more
2013European Journal of Human Genetics7 citations Open access
Semantic Scholar
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
T. Sander, C. Windemuth, H. Schulz, K. Saar +18 more
2002American journal of medical genetics5 citations
Semantic Scholar
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome
L. Papetti, Livia Schettini, Giacomo Garone, E. Gennaro +3 more
2016American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome
A. Guala, C. Peruzzi, E. Gennaro, L. Pennese +1 more
2015American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene
M. Alagia, P. Bernardo, R. Genesio, E. Gennaro +6 more
2020Neurological Sciences2 citations
Semantic Scholar
A new CHD2 variant: not only severe epilepsy—a case report
B. Piccolo, E. Gennaro, F. Pisani
2021Acta Neurologica Belgica1 citations
Semantic Scholar
qPCR Applications for the Determination of the Biological Age.
M. Castagnetta, U. Pfeffer, A. Chiesa, E. Gennaro +3 more
2020Methods in molecular biology0 citations
Semantic Scholar
OP12 – 2577: Targeted resequencing in epileptic encephalopathies: diagnostic implications and genotype–phenotype correlations
F. Zara, E. Gennaro, S. Vari, D. Coviello +1 more
20150 citations
Semantic Scholar
Multi-site International Validation of a PCR-only Workflow for Fragile X Analysis
A. Hadd, Patrick A. van Bunderen, E. Gennaro, G. Latham +1 more
20130 citations
Semantic Scholar
A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
N. Specchio, M. Trivisano, M. Balestri, E. Gennaro +4 more
2010Acta Neurologica Belgica0 citations
Semantic Scholar
Spectrum ( Seizures plus , Classical and Borderline Severe Myoclonic Epilepsy of Infancy ) Genotype-Phenotype Correlations in a Group of 15 SCN 1 A-Mutated Italian Patients with GEFS +
F. Nicita, A. Spalice, L. Papetti, F. Ursitti +4 more
20100 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

F. Zara×36
Invite
F. Zara — researcher profile on SciRah
P. Striano×19
Invite
P. Striano — researcher profile on SciRah
A. Bianchi×11
Invite
A. Bianchi — researcher profile on SciRah
P. Veggiotti×11
Invite
P. Veggiotti — researcher profile on SciRah

×11

Invite

F. Madia — researcher profile on SciRah

G. Capovilla×9

Invite

G. Capovilla — researcher profile on SciRah

Invite

F. Vigevano — researcher profile on SciRah

Invite

R. Gaggero — researcher profile on SciRah

Invite

D. Coviello — researcher profile on SciRah

Invite

N. Specchio — researcher profile on SciRah

Invite

L. Giordano — researcher profile on SciRah

Invite

M. Viri — researcher profile on SciRah