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Items: 1 to 50 of 69

1.

Clinical spectrum of STX1B-related epileptic disorders.

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.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.

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.

Cell Rep. 2019 Jan 22;26(4):1071. doi: 10.1016/j.celrep.2019.01.037. No abstract available.

3.

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.

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.

Cell Rep. 2019 Jan 2;26(1):54-64.e6. doi: 10.1016/j.celrep.2018.12.018. Erratum in: Cell Rep. 2019 Jan 22;26(4):1071.

4.

Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US.

Sands TT, Rahdari S, Oldham MS, Caminha Nunes E, Tilton N, Cilio MR.

CNS Drugs. 2019 Jan;33(1):47-60. doi: 10.1007/s40263-018-0589-2.

PMID:
30460546
5.

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

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.

Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632.

PMID:
30311377
6.

Lack of response to quinidine in KCNT1-related neonatal epilepsy.

Numis AL, Nair U, Datta AN, Sands TT, Oldham MS, Patel A, Li M, Gazina E, Petrou S, Cilio MR.

Epilepsia. 2018 Oct;59(10):1889-1898. doi: 10.1111/epi.14551. Epub 2018 Sep 4.

PMID:
30182418
7.

Predictive value of early EEG for seizures in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.

Cornet MC, Pasupuleti A, Fang A, Gonzalez F, Shimotake T, Ferriero DM, Glass HC, Cilio MR.

Pediatr Res. 2018 Sep;84(3):399-402. doi: 10.1038/s41390-018-0040-x. Epub 2018 May 3.

PMID:
29895836
8.

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.

Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. doi: 10.1073/pnas.1800077115. Epub 2018 May 29.

9.

Neonatal epilepsies: Clinical management.

Cornet MC, Sands TT, Cilio MR.

Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Review.

PMID:
29426806
10.

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.

Vilan A, Mendes Ribeiro J, Striano P, Weckhuysen S, Weeke LC, Brilstra E, de Vries LS, Cilio MR.

Neonatology. 2017;112(4):387-393. doi: 10.1159/000478651. Epub 2017 Sep 20.

PMID:
28926830
11.

Profile of neonatal epilepsies: Characteristics of a prospective US cohort.

Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry.

Neurology. 2017 Aug 29;89(9):893-899. doi: 10.1212/WNL.0000000000004284. Epub 2017 Jul 21.

12.

DNM1 encephalopathy: A new disease of vesicle fission.

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; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.

Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.

13.

Seizures in Preterm Neonates: A Multicenter Observational Cohort Study.

Glass HC, Shellhaas RA, Tsuchida TN, Chang T, Wusthoff CJ, Chu CJ, Cilio MR, Bonifacio SL, Massey SL, Abend NS, Soul JS; Neonatal Seizure Registry study group.

Pediatr Neurol. 2017 Jul;72:19-24. doi: 10.1016/j.pediatrneurol.2017.04.016. Epub 2017 Apr 20.

14.

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

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.

Epilepsia. 2017 Mar;58(3):436-445. doi: 10.1111/epi.13676. Epub 2017 Jan 31.

15.

Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.

Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR.

Epilepsia. 2016 Dec;57(12):2019-2030. doi: 10.1111/epi.13596. Epub 2016 Nov 26.

16.

Treatment Duration After Acute Symptomatic Seizures in Neonates: A Multicenter Cohort Study.

Shellhaas RA, Chang T, Wusthoff CJ, Soul JS, Massey SL, Chu CJ, Cilio MR, Bonifacio SL, Abend NS, Tsuchida TN, Glass HC; Neonatal Seizure Registry Study Group.

J Pediatr. 2017 Feb;181:298-301.e1. doi: 10.1016/j.jpeds.2016.10.039. Epub 2016 Nov 7.

17.

Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study.

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; Neonatal Seizure Registry Study Group.

J Pediatr. 2016 Jul;174:98-103.e1. doi: 10.1016/j.jpeds.2016.03.035. Epub 2016 Apr 19.

18.

Current understanding and neurobiology of epileptic encephalopathies.

Auvin S, Cilio MR, Vezzani A.

Neurobiol Dis. 2016 Aug;92(Pt A):72-89. doi: 10.1016/j.nbd.2016.03.007. Epub 2016 Mar 16. Review.

PMID:
26992889
19.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

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; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA.

PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.

20.

Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.

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.

Lancet Neurol. 2016 Mar;15(3):270-8. doi: 10.1016/S1474-4422(15)00379-8. Epub 2015 Dec 24. Erratum in: Lancet Neurol. 2016 Apr;15(4):352.

PMID:
26724101
21.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

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.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
22.

Mild hypothermia and hemorrhagic lesions in neonates with hypoxic-ischemic encephalopathy: experience in an outborn center.

Savarese I, Balestri M, Piersigilli F, Giliberti P, Campi F, Rechichi J, Mondì V, Gesualdo F, Longo D, Cilio MR, Dotta A.

J Matern Fetal Neonatal Med. 2016;29(12):1963-6. doi: 10.3109/14767058.2015.1070138. Epub 2015 Aug 17.

PMID:
26169713
23.

Transcriptional regulator PRDM12 is essential for human pain perception.

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.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
24.

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

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.

Acta Neuropathol. 2015 Aug;130(2):171-83. doi: 10.1007/s00401-015-1441-0. Epub 2015 May 15.

25.

Early and effective treatment of KCNQ2 encephalopathy.

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.

Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.

26.

The case for assessing cannabidiol in epilepsy.

Cilio MR, Thiele EA, Devinsky O.

Epilepsia. 2014 Jun;55(6):787-90. doi: 10.1111/epi.12635. Epub 2014 May 22.

27.

Cannabidiol: pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders.

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.

Epilepsia. 2014 Jun;55(6):791-802. doi: 10.1111/epi.12631. Epub 2014 May 22. Review.

28.

Symptomatic neonatal seizures followed by febrile status epilepticus: the two-hit hypothesis for the subsequent development of epilepsy.

Spagnoli C, Cilio MR, Pavlidis E, Pisani F.

J Child Neurol. 2015 Apr;30(5):615-8. doi: 10.1177/0883073814533004. Epub 2014 May 7.

PMID:
24810087
29.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR.

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

30.

Sleep-wake cycling in a neonate admitted to the NICU: a video-EEG case study during hypothermia treatment.

Axelin A, Cilio MR, Asunis M, Peloquin S, Franck LS.

J Perinat Neonatal Nurs. 2013 Jul-Sep;27(3):263-73. doi: 10.1097/JPN.0b013e31829dc2d3. Review.

PMID:
23899806
31.

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M.

Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4386-91. doi: 10.1073/pnas.1216867110. Epub 2013 Feb 25.

32.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

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; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.

Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.

33.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

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.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
34.

Seizures and magnetic resonance imaging-detected brain injury in newborns cooled for hypoxic-ischemic encephalopathy.

Glass HC, Nash KB, Bonifacio SL, Barkovich AJ, Ferriero DM, Sullivan JE, Cilio MR.

J Pediatr. 2011 Nov;159(5):731-735.e1. doi: 10.1016/j.jpeds.2011.07.015. Epub 2011 Aug 11.

35.

The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.

Miceli F, Soldovieri MV, Iannotti FA, Barrese V, Ambrosino P, Martire M, Cilio MR, Taglialatela M.

Front Pharmacol. 2011 Feb 1;2:2. doi: 10.3389/fphar.2011.00002. eCollection 2011.

36.

Video-EEG monitoring in newborns with hypoxic-ischemic encephalopathy treated with hypothermia.

Nash KB, Bonifacio SL, Glass HC, Sullivan JE, Barkovich AJ, Ferriero DM, Cilio MR.

Neurology. 2011 Feb 8;76(6):556-62. doi: 10.1212/WNL.0b013e31820af91a.

37.

Childhood refractory focal epilepsy following acute febrile encephalopathy.

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.

Eur J Neurol. 2011 Jul;18(7):952-61. doi: 10.1111/j.1468-1331.2010.03253.x. Epub 2010 Nov 18.

PMID:
21087361
38.

Dorsal brain stem syndrome: MR imaging location of brain stem tegmental lesions in neonates with oral motor dysfunction.

Quattrocchi CC, Longo D, Delfino LN, Cilio MR, Piersigilli F, Capua MD, Seganti G, Danhaive O, Fariello G.

AJNR Am J Neuroradiol. 2010 Sep;31(8):1438-42. doi: 10.3174/ajnr.A2103. Epub 2010 Apr 15.

39.

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR.

Clin Genet. 2010 Sep;78(3):289-93. doi: 10.1111/j.1399-0004.2010.01383.x. Epub 2010 Feb 11.

PMID:
20236122
40.

Synergistic neuroprotective therapies with hypothermia.

Cilio MR, Ferriero DM.

Semin Fetal Neonatal Med. 2010 Oct;15(5):293-8. doi: 10.1016/j.siny.2010.02.002. Epub 2010 Mar 7. Review.

41.

Neuronal potassium channel openers in the management of epilepsy: role and potential of retigabine.

Barrese V, Miceli F, Soldovieri MV, Ambrosino P, Iannotti FA, Cilio MR, Taglialatela M.

Clin Pharmacol. 2010;2:225-36. doi: 10.2147/CPAA.S15369. Epub 2010 Dec 7. Erratum in: Clin Pharmacol. 2012;4:23.

42.

Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome.

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.

Epilepsy Res. 2010 Feb;88(2-3):112-7. doi: 10.1016/j.eplepsyres.2009.10.005. Epub 2009 Nov 14.

PMID:
19914805
43.

Expanding CEP290 mutational spectrum in ciliopathies.

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; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.

44.

Gating currents from neuronal K(V)7.4 channels: general features and correlation with the ionic conductance.

Miceli F, Cilio MR, Taglialatela M, Bezanilla F.

Channels (Austin). 2009 Jul-Aug;3(4):274-83. Epub 2009 Jul 9.

PMID:
19690464
45.

Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy.

Cilio MR, Bianchi R, Balestri M, Onofri A, Giovannini S, Di Capua M, Vigevano F.

Epilepsy Res. 2009 Sep;86(1):66-71. doi: 10.1016/j.eplepsyres.2009.05.004. Epub 2009 Jun 10.

PMID:
19520548
46.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

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.

Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12.

47.

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

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.

Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10.

PMID:
19362436
48.

The usefulness of near-infrared spectroscopy for detecting and monitoring status epilepticus after pediatric cardiac surgery.

Giorni C, Di Chiara L, Cilio MR, Ricci Z, Morelli S, Garisto C, Picardo S.

J Cardiothorac Vasc Anesth. 2009 Oct;23(5):668-71. doi: 10.1053/j.jvca.2008.12.004. Epub 2009 Feb 13. No abstract available.

PMID:
19217803
49.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

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.

Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7.

PMID:
19135028
50.

Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M.

J Neurosci. 2007 May 2;27(18):4919-28.

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