Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys
Mei, Davide, Darra, Francesca, Barba, Carmen, Marini, Carla, Fontana, Elena, Chiti, Laura, Parrini, Elena, Dalla Bernardina, Bernardo, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.11.2014)
Published in Epilepsia (Copenhagen) (01.11.2014)
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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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Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
Conti, Valerio, Aracri, Patrizia, Chiti, Laura, Brusco, Simone, Mari, Francesco, Marini, Carla, Albanese, Maria, Marchi, Angela, Liguori, Claudio, Placidi, Fabio, Romigi, Andrea, Becchetti, Andrea, Guerrini, Renzo
Published in Neurology (14.04.2015)
Published in Neurology (14.04.2015)
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Journal Article
Optimizing the molecular diagnosis of CDKL 5 gene–related epileptic encephalopathy in boys
Mei, Davide, Darra, Francesca, Barba, Carmen, Marini, Carla, Fontana, Elena, Chiti, Laura, Parrini, Elena, Dalla Bernardina, Bernardo, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.11.2014)
Published in Epilepsia (Copenhagen) (01.11.2014)
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Journal Article
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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Journal Article