Publications

Early and effective treatment of KCNQ2 encephalopathy., Pisano, Tiziana, Numis Adam L., Heavin Sinéad B., Weckhuysen Sarah, Angriman Marco, Suls Arvid, Podesta Barbara, Thibert Ronald L., Shapiro Kevin A., Guerrini Renzo, et al. , Epilepsia, 2015 May, Volume 56, Issue 5, p.685-91, (2015) Abstract

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency., Tan, Chuan, Shard Chloe, Ranieri Enzo, Hynes Kim, Pham Duyen H., Leach Damian, Buchanan Grant, Corbett Mark, Shoubridge Cheryl, Kumar Raman, et al. , Human molecular genetics, 2015 Jun 29, (2015) Abstract

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, et al. , Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015) Abstract

Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation., Ilvento, Lucrezia, Rosati Anna, Marini Carla, L'Erario Manuela, Mirabile Lorenzo, and Guerrini Renzo , Epilepsy & behavior : E&B, 2015 Jul 16, (2015) Abstract

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome., Doccini, Stefano, Meschini Maria Chiara, Mei Davide, Guerrini Renzo, Sicca Federico, and Santorelli Filippo Maria , Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015 Jul 14, (2015)

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy., Guerrini, Renzo, Melani Federico, Brancati Claudia, Ferrari Anna Rita, Brovedani Paola, Biggeri Annibale, Grisotto Laura, and Pellacani Simona , PloS one, 2015, Volume 10, Issue 7, p.e0130883, (2015) Abstract

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis., Sieni, Elena, Barba Carmen, Mortilla Marzia, Savelli Sara, Grisotto Laura, Di Giacomo Gianpiero, Romano Katiuscia, Fonda Claudio, Biggeri Annibale, Guerrini Renzo, et al. , PloS one, 2015, Volume 10, Issue 7, p.e0131635, (2015) Abstract

Periventricular nodular heterotopia in Smith-Magenis syndrome., Capra, Valeria, Biancheri Roberta, Morana Giovanni, Striano Pasquale, Novara Francesca, Ferrero Giovanni Battista, Boeri Luca, Celle Maria Elena, Mancardi Maria Margherita, Zuffardi Orsetta, et al. , American journal of medical genetics. Part A, 2014 Dec, Volume 164A, Issue 12, p.3142-7, (2014) Abstract

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms., Conti, Valerio, Marini Carla, Mei Davide, Falchi Melania, Ferrari Anna Rita, and Guerrini Renzo , American journal of medical genetics. Part A, 2010 Dec 10, (2010) Abstract