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Maria Roberta Cilio, M.D., Ph.D.

Pediatric neurologist

Dr. Maria Roberta Cilio is a pediatric and neonatal epileptologist who serves as the director of research in pediatric epilepsy at the UCSF Epilepsy Center. Cilio is an internationally renowned expert in the diagnosis and treatment of early-onset epilepsies and epileptic encephalopathies. Her research aims to improve the diagnosis and treatment of rare epilepsies, particularly those that are genetic, which occur in the very first years of life. Cilio serves as project leader for research funded by the European Commission ERA-Net for Research Programmes on Rare Diseases and the Italian Ministry of Health. The research aims to develop continuous EEG monitoring in neonates at risk for epilepsy and identify the genetic defects in infants with epilepsy with the goal of developing targeted treatment strategies.

Cilio received her medical degree from the University of Rome La Sapienza in Italy. Subsequently, she completed a residency in pediatrics and pediatric neurology at the Catholic University of Louvain in Brussels, Belgium and University of Rome La Sapienza, followed by a fellowship in pediatric epilepsy and clinical neurophysiology at the Bambino Gesú Hospital and Research Institute of Rome. Cilio then earned a doctorate at Boston Children's Hospital, Harvard Medical School, which focused on the structural and functional consequences of seizures in the immature brain. Cilio is professor in the Department of Neurology at UCSF, where she received the Presidential Chair Award from the Office of the President.

Clinics

Epilepsy Center
400 Parnassus Ave., Suite A-889
San Francisco, CA 94143
Phone: (415) 353-2437

Conditions & Treatments

More about Maria Roberta Cilio

Additional Languages

English
French
Italian
Spanish

Education

Universita Degli Studi di Roma La Sapienza 1988

Residencies

Catholic University of Louvain, Pediatrics 1989
University of Rome La Sapienza, Pediatric Neurology 1993

Fellowships

Bambino Gesú Children's Hospital and Research Institute, Pediatric Epilepsy 1997

Selected Research and Publications

  1. Axelin A, Cilio MR, Asunis M, Peloquin S, Franck LS. Sleep-wake cycling in a neonate admitted to the NICU: a video-EEG case study during hypothermia treatment. J Perinat Neonatal Nurs. 2013 Jul-Sep; 27(3):263-73.
  2. Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci U S A. 2013 Mar 12; 110(11):4386-91.
  3. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct; 21(10):1074-8.
  4. Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013 Jan; 36(1):43-53.
  5. Glass HC, Nash KB, Bonifacio SL, Barkovich AJ, Ferriero DM, Sullivan JE, Cilio MR. Seizures and magnetic resonance imaging-detected brain injury in newborns cooled for hypoxic-ischemic encephalopathy. J Pediatr. 2011 Nov; 159(5):731-735.e1.
  6. Nash KB, Bonifacio SL, Glass HC, Sullivan JE, Barkovich AJ, Ferriero DM, Cilio MR. Video-EEG monitoring in newborns with hypoxic-ischemic encephalopathy treated with hypothermia. Neurology. 2011 Feb 8; 76(6):556-62.
  7. Miceli F, Soldovieri MV, Iannotti FA, Barrese V, Ambrosino P, Martire M, Cilio MR, Taglialatela M. The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants. Front Pharmacol. 2011; 2:2.
  8. Barrese V, Miceli F, Soldovieri MV, Ambrosino P, Iannotti FA, Cilio MR, Taglialatela M. Neuronal potassium channel openers in the management of epilepsy: role and potential of retigabine. Clin Pharmacol. 2010; 2:225-36.
  9. Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F. Childhood refractory focal epilepsy following acute febrile encephalopathy. Eur J Neurol. 2011 Jul; 18(7):952-61.
  10. Quattrocchi CC, Longo D, Delfino LN, Cilio MR, Piersigilli F, Capua MD, Seganti G, Danhaive O, Fariello G. Dorsal brain stem syndrome: MR imaging location of brain stem tegmental lesions in neonates with oral motor dysfunction. AJNR Am J Neuroradiol. 2010 Sep; 31(8):1438-42.
  11. Cilio MR, Ferriero DM. Synergistic neuroprotective therapies with hypothermia. Semin Fetal Neonatal Med. 2010 Oct; 15(5):293-8.
  12. Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR. Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. Clin Genet. 2010 Sep; 78(3):289-93.
  13. Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F. Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome. Epilepsy Res. 2010 Feb; 88(2-3):112-7.
  14. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
  15. Miceli F, Cilio MR, Taglialatela M, Bezanilla F. Gating currents from neuronal K(V)7.4 channels: general features and correlation with the ionic conductance. Channels (Austin). 2009 Jul-Aug; 3(4):274-83.
  16. Cilio MR, Bianchi R, Balestri M, Onofri A, Giovannini S, Di Capua M, Vigevano F. Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy. Epilepsy Res. 2009 Sep; 86(1):66-71.
  17. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev. 2010 Jan; 32(1):17-24.
  18. Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia. 2009 Jul; 50(7):1670-8.
  19. Giorni C, Di Chiara L, Cilio MR, Ricci Z, Morelli S, Garisto C, Picardo S. The usefulness of near-infrared spectroscopy for detecting and monitoring status epilepticus after pediatric cardiac surgery. J Cardiothorac Vasc Anesth. 2009 Oct; 23(5):668-71.
  20. Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Biochem Biophys Res Commun. 2009 Feb 20; 379(4):892-7.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions to their publications by logging on to UCSF Profiles.