Maria Margherita Mancardi

Istituto Giannina Gaslini — Italy

Medicine · Health Sciences

30h-index3.7kcitations188works2.32yr avg
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Research Topics

Epilepsy research and treatment(50), Genetics and Neurodevelopmental Disorders(44), Genomics and Rare Diseases(28), Genomic variations and chromosomal abnormalities(15), Autoimmune Neurological Disorders and Treatments(14)

Publications181 total

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions
Genetics in Medicine·2025
Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy
Neurophysiologie Clinique·2025
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion
European Journal of Medical Genetics·2025Open Access
Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop
Epilepsia·2025· 2 citedOpen Access
Long‐term plasma monitoring of <scp>THC</scp> and <scp>CBD</scp> in pediatric drug‐resistant epilepsy: Implications for cannabidiol therapy with Epidyolex®
Epilepsia Open·2025· 2 citedOpen Access
VNS treatment in super-refractory status epilepticus: report of two cases and systematic review of literature
Neurological Sciences·2025· 1 cited
Refractory “status dyskineticus” in a child with post-herpes simplex virus 1 N-methyl-D-aspartate receptor encephalitis: a case report
BMC Neurology·2025Open Access
Differential outcomes in familial and sporadic <i>SCN8A</i> self‐limited infantile epilepsies: Insights from a large international registry
Epilepsia·2025Open Access
Delphi consensus finding on paediatric-adult transition: results from the epilepsy transition working group of the italian league against epilepsy (LICE)
Neurological Sciences·2025· 3 citedOpen Access
Co‐occurrence of childhood absence epilepsy and self‐limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone
Epileptic Disorders·2025Open Access
Practical management of repeated life‐threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review
Epileptic Disorders·2025Open Access
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study
Epilepsia·2025· 9 citedOpen Access
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency
Stem Cell Research·2025· 1 citedOpen Access
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
UNC Libraries·2025Open Access
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series
The Lancet Neurology·2025· 7 citedOpen Access
Novel De Novo <scp><i>RALA</i></scp> Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome
Molecular Genetics & Genomic Medicine·2025Open Access
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
Orphanet Journal of Rare Diseases·2025· 11 citedOpen Access
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
The American Journal of Human Genetics·2025· 3 citedOpen Access
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion
SSRN Electronic Journal·2025Open Access
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
European Journal of Paediatric Neurology·2024· 2 cited
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Frequent Co-authors

Pasquale Striano(20), Federico Zara(14), Thea Giacomini(12), Andrea Rossi(10), Lino Nobili(10), Valeria Capra(9), M. G. Baglietto(8), Mariasavina Severino(8), Antonietta Coppola(7), Giuseppe Capovilla(7), Edvige Veneselli(7), R. Gaggero(6), Francesca Madia(6), Giulia Prato(6), Marcello Scala(6), Giovanni Morana(6), Tiziana Granata(5), Renzo Guerrini(5), Margherita Nosadini(5), Elena Di Gennaro(5)