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    Roberta Cilio, MD, PhD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentNeurology
    Address505 Parnassus Ave, Moffitt
    San Francisco CA 94143
    Phone415-514-8415

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       Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Devinsky O, Cilio MR, Cross H, Fernandez-Ruiz J, French J, Hill C, Katz R, Di Marzo V, Jutras-Aswad D, Notcutt WG, Martinez-Orgado J, Robson PJ, Rohrback BG, Thiele E, Whalley B, Friedman D. Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders. Epilepsia. 2014 Jun; 55(6):791-802.
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      2. Cilio MR, Thiele EA, Devinsky O. The case for assessing cannabidiol in epilepsy. Epilepsia. 2014 Jun; 55(6):787-90.
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      3. Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR. KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response. Neurology. 2014 Jan 28; 82(4):368-70.
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      4. 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.
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      5. 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.
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      6. 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.
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      7. 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.
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      8. 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.
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      9. 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.
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      10. 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.
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      11. 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.
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      12. 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.
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      13. 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.
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      14. Cilio MR, Ferriero DM. Synergistic neuroprotective therapies with hypothermia. Semin Fetal Neonatal Med. 2010 Oct; 15(5):293-8.
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      15. 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.
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      16. 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.
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      17. 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.
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      18. 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.
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      19. 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.
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      20. 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.
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      21. 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.
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      22. 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.
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      23. 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.
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      24. Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. J Neurosci. 2007 May 2; 27(18):4919-28.
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      25. Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. 2006 Oct 10; 67(7):1230-5.
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      26. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet. 2004 May; 41(5):373-80.
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      27. Liu X, Muller RU, Huang LT, Kubie JL, Rotenberg A, Rivard B, Cilio MR, Holmes GL. Seizure-induced changes in place cell physiology: relationship to spatial memory. J Neurosci. 2003 Dec 17; 23(37):11505-15.
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      28. Cilio MR, Sogawa Y, Cha BH, Liu X, Huang LT, Holmes GL. Long-term effects of status epilepticus in the immature brain are specific for age and model. Epilepsia. 2003 Apr; 44(4):518-28.
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      29. Rutten A, van Albada M, Silveira DC, Cha BH, Liu X, Hu YN, Cilio MR, Holmes GL. Memory impairment following status epilepticus in immature rats: time-course and environmental effects. Eur J Neurosci. 2002 Aug; 16(3):501-13.
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      30. Sogawa Y, Monokoshi M, Silveira DC, Cha BH, Cilio MR, McCabe BK, Liu X, Hu Y, Holmes GL. Timing of cognitive deficits following neonatal seizures: relationship to histological changes in the hippocampus. Brain Res Dev Brain Res. 2001 Nov 26; 131(1-2):73-83.
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      31. Cilio MR, Kartashov AI, Vigevano F. The long-term use of felbamate in children with severe refractory epilepsy. Epilepsy Res. 2001 Nov; 47(1-2):1-7.
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      32. Zhou B, Bae SK, Malone AC, Levinson BB, Kuo YM, Cilio MR, Bertini E, Hayflick SJ, Gitschier JM. hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA. Pediatr Neurol. 2001 Aug; 25(2):156-61.
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      33. McCabe BK, Silveira DC, Cilio MR, Cha BH, Liu X, Sogawa Y, Holmes GL. Reduced neurogenesis after neonatal seizures. J Neurosci. 2001 Mar 15; 21(6):2094-103.
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      34. Camacho F, Cilio M, Guo Y, Virshup DM, Patel K, Khorkova O, Styren S, Morse B, Yao Z, Keesler GA. Human casein kinase Idelta phosphorylation of human circadian clock proteins period 1 and 2. FEBS Lett. 2001 Feb 2; 489(2-3):159-65.
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      35. Cilio MR, Bolanos AR, Liu Z, Schmid R, Yang Y, Stafstrom CE, Mikati MA, Holmes GL. Anticonvulsant action and long-term effects of gabapentin in the immature brain. Neuropharmacology. 2001; 40(1):139-47.
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      36. Su SW, Cilio MR, Sogawa Y, Silveira DC, Holmes GL, Stafstrom CE, Silveira D. Timing of ketogenic diet initiation in an experimental epilepsy model. Brain Res Dev Brain Res. 2000 Dec 29; 125(1-2):131-8.
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      37. Huang L, Cilio MR, Silveira DC, McCabe BK, Sogawa Y, Stafstrom CE, Holmes GL. Long-term effects of neonatal seizures: a behavioral, electrophysiological, and histological study. Brain Res Dev Brain Res. 1999 Dec 10; 118(1-2):99-107.
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      38. Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H. Mendelian diseases among Roman Jews: implications for the origins of disease alleles. J Clin Endocrinol Metab. 1999 Dec; 84(12):4405-9.
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      39. Leuzzi V, Lyon G, Cilio MR, Pedespan JM, Fontan D, Chateil JF, Vital A. Childhood demyelinating diseases with a prolonged remitting course and their relation to Schilder's disease: report of two cases. J Neurol Neurosurg Psychiatry. 1999 Mar; 66(3):407-8.
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      40. Bertini E, Sabatelli M, Di Capua M, Cilio MR, Mignogna T, Federico A, Tonali P. Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome. Eur J Paediatr Neurol. 1998; 2(5):245-54.
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      41. Vigevano F, Cilio MR. Vigabatrin versus ACTH as first-line treatment for infantile spasms: a randomized, prospective study. Epilepsia. 1997 Dec; 38(12):1270-4.
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      42. Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet. 1996 Dec; 14(4):479-81.
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      43. Curatolo P, Cilio MR, Del Giudice E, Romano A, Gaggero R, Pessagno A. Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome. Neuropediatrics. 1993 Apr; 24(2):77-82.
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      44. Cilio MR, Danhaive O, Gadisseux JF, Otte JB, Sokal EM. Unusual cyclosporin related neurological complications in recipients of liver transplants. Arch Dis Child. 1993 Mar; 68(3):405-7.
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