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

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)

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

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects., Sossey-Alaoui, K., Hartung A. J., Guerrini R., Manchester D. K., Posar A., Puche-Mira A., Andermann E., Dobyns W. B., and Srivastava A. K. , Human molecular genetics, 1998 Aug, Volume 7, Issue 8, p.1327-32, (1998) Abstract

Cortical reflex myoclonus in Rett syndrome., Guerrini, R., Bonanni P., Parmeggiani L., Santucci M., Parmeggiani A., and Sartucci F. , Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.472-9, (1998) Abstract

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain., Ross, M. E., Allen K. M., Srivastava A. K., Featherstone T., Gleeson J. G., Hirsch B., Harding B. N., Andermann E., Abdullah R., Berg M., et al. , Human molecular genetics, 1997 Apr, Volume 6, Issue 4, p.555-62, (1997) Abstract

Early clinical and EEG features of infantile spasms in Down syndrome., Silva, M. L., Cieuta C., Guerrini R., Plouin P., Livet M. O., and Dulac O. , Epilepsia, 1996 Oct, Volume 37, Issue 10, p.977-82, (1996) Abstract

Cortical myoclonus in Angelman syndrome., Guerrini, R., DeLorey T. M., Bonanni P., Moncla A., Dravet C., Suisse G., Livet M. O., Bureau M., Malzac P., Genton P., et al. , Annals of neurology, 1996 Jul, Volume 40, Issue 1, p.39-48, (1996) Abstract

Band heterotopia: correlation of outcome with magnetic resonance imaging parameters., Barkovich, A. J., Guerrini R., Battaglia G., Kalifa G., N'Guyen T., Parmeggiani A., Santucci M., Giovanardi-Rossi P., Granata T., and D'Incerti L. , Annals of neurology, 1994 Oct, Volume 36, Issue 4, p.609-17, (1994) Abstract

Occipitotemporal seizures with ictus emeticus induced by intermittent photic stimulation., Guerrini, R., Ferrari A. R., Battaglia A., Salvadori P., and Bonanni P. , Neurology, 1994 Feb, Volume 44, Issue 2, p.253-9, (1994) Abstract

[The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome)]., Guerrini, R., Dravet C., Ferrari A. R., Battaglia A., Mattei M. G., Salvadori P., Genton P., and Pfanner P. , La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1993 May-Jun, Volume 15 Suppl 1, p.19-22, (1993) Abstract

Continuous focal spikes during REM sleep in a case of acquired aphasia (Landau-Kleffner syndrome)., Genton, P., Maton B., Ogihara M., Samoggia G., Guerrini R., Medina M. T., Dravet C., and Roger J. , Sleep, 1992 Oct, Volume 15, Issue 5, p.454-60, (1992) Abstract

Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study., Dravet, C., Julian C., Legras C., Magaudda A., Guerrini R., Genton P., Soulayrol S., Giraud N., Mesdjian E., and Trentin G. , Neurology, 1992 Apr, Volume 42, Issue 4 Suppl 5, p.75-82, (1992) Abstract

Brainstem auditory evoked potentials in alternating hemiplegia: ictal vs interictal assessment in one case., Santanelli, P., Guerrini R., Dravet C., Genton P., Bureau M., and Farnarier G. , Clinical EEG (electroencephalography), 1990 Jan, Volume 21, Issue 1, p.51-4, (1990) Abstract