Publications

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

Lamotrigine and seizure aggravation in severe myoclonic epilepsy., Guerrini, R., Dravet C., Genton P., Belmonte A., Kaminska A., and Dulac O. , Epilepsia, 1998 May, Volume 39, Issue 5, p.508-12, (1998) Abstract

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation., Guerrini, R., and Dobyns W. B. , Neurology, 1998 Aug, Volume 51, Issue 2, p.499-503, (1998) 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

Angelman syndrome: correlations between epilepsy phenotypes and genotypes., Minassian, B. A., DeLorey T. M., Olsen R. W., Philippart M., Bronstein Y., Zhang Q., Guerrini R., Van Ness P., Livet M. O., and Delgado-Escueta A. V. , Annals of neurology, 1998 Apr, Volume 43, Issue 4, p.485-93, (1998) Abstract

Induction of partial seizures by visual stimulation. Clinical and electroencephalographic features and evoked potential studies., Guerrini, R., Bonanni P., Parmeggiani L., Thomas P., Mattia D., Harvey A. S., and Duchowny M. S. , Advances in neurology, 1998, Volume 75, p.159-78, (1998)

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome., Dobyns, W. B., Guerrini R., Czapansky-Beilman D. K., Pierpont M. E., Breningstall G., Yock D. H., Bonanni P., and Truwit C. L. , Neurology, 1997 Oct, Volume 49, Issue 4, p.1042-7, (1997) Abstract

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy., Guerrini, R., Dubeau F., Dulac O., Barkovich A. J., Kuzniecky R., Fett C., Jones-Gotman M., Canapicchi R., Cross H., Fish D., et al. , Annals of neurology, 1997 Jan, Volume 41, Issue 1, p.65-73, (1997) Abstract

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia., Fink, J. M., Dobyns W. B., Guerrini R., and Hirsch B. A. , American journal of human genetics, 1997 Aug, Volume 61, Issue 2, p.379-87, (1997) 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

X-linked malformations of neuronal migration., Dobyns, W. B., Andermann E., Andermann F., Czapansky-Beilman D., Dubeau F., Dulac O., Guerrini R., Hirsch B., Ledbetter D. H., Lee N. S., et al. , Neurology, 1996 Aug, Volume 47, Issue 2, p.331-9, (1996) Abstract

Idiopathic photosensitive occipital lobe epilepsy., Guerrini, R., Dravet C., Genton P., Bureau M., Bonanni P., Ferrari A. R., and Roger J. , Epilepsia, 1995 Sep, Volume 36, Issue 9, p.883-91, (1995) 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

[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

Epileptic negative myoclonus., Guerrini, R., Dravet C., Genton P., Bureau M., Roger J., Rubboli G., and Tassinari C. A. , Neurology, 1993 Jun, Volume 43, Issue 6, p.1078-83, (1993) Abstract

[Partial trisomy of the long arm of chromosome 6. A clinical case]., Dellacasa, P., Bonanni P., and Guerrini R. , Minerva pediatrica, 1993 Dec, Volume 45, Issue 12, p.517-21, (1993) Abstract