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)

Myoclonic absence-like seizures and chromosome abnormality syndromes., Elia, M., Guerrini R., Musumeci S. A., Bonanni P., Gambardella A., and Aguglia U. , Epilepsia, 1998 Jun, Volume 39, Issue 6, p.660-3, (1998) Abstract