D
Domenico Rutigliano
Researcher at University of Florence
Publications - 2
Citations - 133
Domenico Rutigliano is an academic researcher from University of Florence. The author has contributed to research in topics: Proband & Epilepsy. The author has an hindex of 1, co-authored 2 publications receiving 102 citations.
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Journal ArticleDOI
Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
Elena Parrini,Carla Marini,Davide Mei,Anna Galuppi,Elena Cellini,Daniela Pucatti,Laura Chiti,Domenico Rutigliano,Claudia Bianchini,Simona Virdò,Dalila De Vita,Stefania Bigoni,Carmen Barba,Francesco Mari,Martino Montomoli,Tiziana Pisano,Anna Rosati,Renzo Guerrini +17 more
TL;DR: Data show that panels targeting about 100 genes represent the best cost‐effective diagnostic option in pediatric drug‐resistant epilepsies and enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype–genotype correlations.
Journal ArticleDOI
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.
Dalila De Vita,Davide Mei,Domenico Rutigliano,Niccolò Bartalucci,Claudia Cinnante,Elena Parrini,Robertino Dilena,Renzo Guerrini +7 more
TL;DR: A mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto‐occipital in the mother and with remarkable posterior greater than anterior severity in the son are described, which can be the only clinical presentation of constitutional LIS1 mutations.