Roberta Cilio
Professor
+1 415 514-8415
+1 415 502-5821

Publications

Glass HC, Soul JS, Chu CJ, Massey SL, Wusthoff CJ, Chang T, Cilio MR, Bonifacio SL, Abend NS, Thomas C, Lemmon M, McCulloch CE, Shellhaas RA. Response to antiseizure medications in neonates with acute symptomatic seizures. Epilepsia. 2019 Mar; 60(3):e20-e24.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12; 92(11):e1238-e1249.
Nunes ML, Yozawitz EG, Zuberi S, Mizrahi EM, Cilio MR, Moshé SL, Plouin P, Vanhatalo S, Pressler RM. Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia Open. 2019 Mar; 4(1):10-29.
Ritter-Makinson S, Clemente-Perez A, Higashikubo B, Cho FS, Holden SS, Bennett E, Chkhaidze A, Eelkman Rooda OHJ, Cornet MC, Hoebeek FE, Yamakawa K, Cilio MR, Delord B, Paz JT. Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. Cell Rep. 2019 Jan 22; 26(4):1071.
Ritter-Makinson S, Clemente-Perez A, Higashikubo B, Cho FS, Holden SS, Bennett E, Chkhaidze A, Eelkman Rooda OHJ, Cornet MC, Hoebeek FE, Yamakawa K, Cilio MR, Delord B, Paz JT. Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. Cell Rep. 2019 Jan 02; 26(1):54-64.e6.
Sands TT, Rahdari S, Oldham MS, Caminha Nunes E, Tilton N, Cilio MR. Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US. CNS Drugs. 2019 Jan; 33(1):47-60.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 Nov; 39(11):1476-1484.
Numis AL, Nair U, Datta AN, Sands TT, Oldham MS, Patel A, Li M, Gazina E, Petrou S, Cilio MR. Lack of response to quinidine in KCNT1-related neonatal epilepsy. Epilepsia. 2018 Oct; 59(10):1889-1898.
Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proc Natl Acad Sci U S A. 2018 06 12; 115(24):E5516-E5525.
Cornet MC, Pasupuleti A, Fang A, Gonzalez F, Shimotake T, Ferriero DM, Glass HC, Cilio MR. Predictive value of early EEG for seizures in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia. Pediatr Res. 2018 Sep; 84(3):399-402.
Cornet MC, Sands TT, Cilio MR. Neonatal epilepsies: Clinical management. Semin Fetal Neonatal Med. 2018 06; 23(3):204-212.
Vilan A, Mendes Ribeiro J, Striano P, Weckhuysen S, Weeke LC, Brilstra E, de Vries LS, Cilio MR. A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations. Neonatology. 2017; 112(4):387-393.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR. Profile of neonatal epilepsies: Characteristics of a prospective US cohort. Neurology. 2017 Aug 29; 89(9):893-899.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394.
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 03; 58(3):436-445.
Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia. 2016 12; 57(12):2019-2030.
Shellhaas RA, Chang T, Wusthoff CJ, Soul JS, Massey SL, Chu CJ, Cilio MR, Bonifacio SL, Abend NS, Tsuchida TN, Glass HC. Treatment Duration After Acute Symptomatic Seizures in Neonates: A Multicenter Cohort Study. J Pediatr. 2017 02; 181:298-301.e1.
Glass HC, Shellhaas RA, Wusthoff CJ, Chang T, Abend NS, Chu CJ, Cilio MR, Glidden DV, Bonifacio SL, Massey S, Tsuchida TN, Silverstein FS, Soul JS. Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study. J Pediatr. 2016 Jul; 174:98-103.e1.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016; 11(3):e0150426.
Auvin S, Cilio MR, Vezzani A. Current understanding and neurobiology of epileptic encephalopathies. Neurobiol Dis. 2016 08; 92(Pt A):72-89.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR. Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial. Lancet Neurol. 2016 Mar; 15(3):270-8.
Savarese I, Balestri M, Piersigilli F, Giliberti P, Campi F, Rechichi J, Mondì V, Gesualdo F, Longo D, Cilio MR, Dotta A. Mild hypothermia and hemorrhagic lesions in neonates with hypoxic-ischemic encephalopathy: experience in an outborn center. J Matern Fetal Neonatal Med. 2016; 29(12):1963-6.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Aug; 47(8):962.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015 Jul; 47(7):803-8.
Nobuta H, Cilio MR, Danhaive O, Tsai HH, Tupal S, Chang SM, Murnen A, Kreitzer F, Bravo V, Czeisler C, Gokozan HN, Gygli P, Bush S, Weese-Mayer DE, Conklin B, Yee SP, Huang EJ, Gray PA, Rowitch D, Otero JJ. Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathol. 2015 Aug; 130(2):171-83.
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015 May; 56(5):685-91.
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.
Cilio MR, Thiele EA, Devinsky O. The case for assessing cannabidiol in epilepsy. Epilepsia. 2014 Jun; 55(6):787-90.
Spagnoli C, Cilio MR, Pavlidis E, Pisani F. Symptomatic neonatal seizures followed by febrile status epilepticus: the two-hit hypothesis for the subsequent development of epilepsy. J Child Neurol. 2015 Apr; 30(5):615-8.
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.
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.
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.
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, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct; 21(10):1074-8.
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.
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.
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.
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.
Cilio MR, Ferriero DM. Synergistic neuroprotective therapies with hypothermia. Semin Fetal Neonatal Med. 2010 Oct; 15(5):293-8.
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.
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.
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.
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.
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.
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.
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 02; 27(18):4919-28.
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.
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.
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.