Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
Cetica, Valentina, Chiari, Sara, Mei, Davide, Parrini, Elena, Grisotto, Laura, Marini, Carla, Pucatti, Daniela, Ferrari, Annarita, Sicca, Federico, Specchio, Nicola, Trivisano, Marina, Battaglia, Domenica, Contaldo, Ilaria, Zamponi, Nelia, Petrelli, Cristina, Granata, Tiziana, Ragona, Francesca, Avanzini, Giuliano, Guerrini, Renzo
Published in Neurology (14.03.2017)
Published in Neurology (14.03.2017)
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Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, Vita, Dalila, Bigoni, Stefania, Barba, Carmen, Mari, Francesco, Montomoli, Martino, Pisano, Tiziana, Rosati, Anna, Guerrini, Renzo
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
Guerrini, Renzo, Cellini, Elena, Mei, Davide, Metitieri, Tiziana, Petrelli, Cristina, Pucatti, Daniela, Marini, Carla, Zamponi, Nelia
Published in Epilepsia (Copenhagen) (01.12.2010)
Published in Epilepsia (Copenhagen) (01.12.2010)
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Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Parrini, Elena, Mei, Davide, Pisanti, Maria Antonietta, Catarzi, Serena, Pucatti, Daniela, Bianchini, Claudia, Mascalchi, Mario, Bertini, Enrico, Morrone, Amelia, Cavaliere, Maria Luigia, Guerrini, Renzo
Published in Journal of medical genetics (01.06.2015)
Published in Journal of medical genetics (01.06.2015)
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes: HUMAN MUTATION
Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, De Vita, Dalila, Bigoni, Stefania, Barba, Carmen, Mari, Francesco, Montomoli, Martino, Pisano, Tiziana, Rosati, Anna, Guerrini, Renzo
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN/A gene
GUERRINI, Renzo, CELLINI, Elena, MEI, Davide, METITIERI, Tiziana, PETRELLI, Cristina, PUCATTI, Daniela, MARINI, Carla, ZAMPONI, Nelia
Published in Epilepsia (Copenhagen) (2010)
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Published in Epilepsia (Copenhagen) (2010)
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In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Parrini, Elena, Rivas, Isabel Llano, Toral, Joaquin Fernandez, Pucatti, Daniela, Giglio, Sabrina, Mei, Davide, Guerrini, Renzo
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Journal Article
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Parrini, Elena, Rivas, Isabel Llano, Toral, Joaquin Fernandez, Pucatti, Daniela, Giglio, Sabrina, Mei, Davide, Guerrini, Renzo
Published in American Journal of Medical Genetics Part A (01.05.2011)
Published in American Journal of Medical Genetics Part A (01.05.2011)
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