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Items: 1 to 50 of 460

1.

Distal motor neuropathy associated with novel EMILIN1 mutation.

Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C.

Neurobiol Dis. 2020 Jan 21:104757. doi: 10.1016/j.nbd.2020.104757. [Epub ahead of print]

PMID:
31978608
2.

Seizures cluster around genetics.

Striano P.

Eur J Paediatr Neurol. 2020 Jan 10. pii: S1090-3798(20)30012-X. doi: 10.1016/j.ejpn.2020.01.011. [Epub ahead of print] No abstract available.

PMID:
31948825
3.

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.

Scala M, Bianchi A, Bisulli F, Coppola A, Elia M, Trivisano M, Pruna D, Pippucci T, Canafoglia L, Lattanzi S, Franceschetti S, Nobile C, Zara F, Striano P, Michelucci R, Gambardella A on the behalf of Genetic Commission of Italian League Against Epilepsy (LICE).

Expert Rev Neurother. 2020 Jan 16. doi: 10.1080/14737175.2020.1713101. [Epub ahead of print]

PMID:
31941393
4.

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.

Lammertse HCA, van Berkel AA, Iacomino M, Toonen RF, Striano P, Gambardella A, Verhage M, Zara F.

Brain. 2019 Dec 19. pii: awz391. doi: 10.1093/brain/awz391. [Epub ahead of print]

PMID:
31855252
5.

Genomic and clinical predictors of lacosamide response in refractory epilepsies.

Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Stefansson H, Striano P, Zara F; EPIGEN Consortium; EpiPGX Consortium, Depondt C, Sisodiya S, Goldstein D, Lerche H, Cavalleri GL, Delanty N.

Epilepsia Open. 2019 Sep 25;4(4):563-571. doi: 10.1002/epi4.12360. eCollection 2019 Dec.

6.

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Beghi E, Giussani G, Bianchi E, Randazzo G, Sarcona V, Elia M, Striano P, Verrotti A, Ferretti A, Rebessi E, Specchio N, Bonanni P.

Seizure. 2020 Jan;74:26-30. doi: 10.1016/j.seizure.2019.11.010. Epub 2019 Nov 23.

PMID:
31805494
7.

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort.

Pepi C, Cesaroni E, Striano P, Maiorani D, Pruna D, Cossu S, Di Capua M, Vigevano F, Specchio N, Cusmai R.

Seizure. 2019 Dec;73:79-82. doi: 10.1016/j.seizure.2019.10.021. Epub 2019 Nov 10.

PMID:
31776058
8.

A pathway to precision therapy even for mitochondrial myoclonic epilepsy.

Carli N, Orsini A, Striano P.

Seizure. 2019 Nov 15. pii: S1059-1311(19)30751-4. doi: 10.1016/j.seizure.2019.11.001. [Epub ahead of print] No abstract available.

PMID:
31740382
9.

The Confirming Evidence for Ictal Epileptic Headache.

Parisi P, Belcastro V, Striano P.

Headache. 2019 Nov;59(10):1832-1833. doi: 10.1111/head.13678. No abstract available.

PMID:
31710106
10.

Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.

Iapadre G, Zagaroli L, Cimini N, Belcastro V, Concolino D, Coppola G, Del Giudice E, Farello G, Iezzi ML, Margari L, Matricardi S, Orsini A, Parisi P, Piccioli M, Di Donato G, Savasta S, Siliquini S, Spalice A, Striano S, Striano P, Verrotti A.

Epilepsy Behav. 2019 Oct 31:106578. doi: 10.1016/j.yebeh.2019.106578. [Epub ahead of print]

PMID:
31680025
11.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.

Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.

12.

Gut microbiota and psychogenic non-epileptic seizures: i can feel it in the belly.

Iannone LF, Belcastro V, Verrotti A, Russo E, Striano P.

Expert Rev Neurother. 2019 Dec;19(12):1165. doi: 10.1080/14737175.2019.1684901. Epub 2019 Oct 25. No abstract available.

PMID:
31650879
13.

Can we 'seize' the gut microbiota to treat epilepsy?

De Caro C, Iannone LF, Citraro R, Striano P, De Sarro G, Constanti A, Cryan JF, Russo E.

Neurosci Biobehav Rev. 2019 Dec;107:750-764. doi: 10.1016/j.neubiorev.2019.10.002. Epub 2019 Oct 15. Review.

PMID:
31626816
14.

Intestinal inflammation increases convulsant activity and reduces antiepileptic drug efficacy in a mouse model of epilepsy.

De Caro C, Leo A, Nesci V, Ghelardini C, di Cesare Mannelli L, Striano P, Avagliano C, Calignano A, Mainardi P, Constanti A, Citraro R, De Sarro G, Russo E.

Sci Rep. 2019 Sep 27;9(1):13983. doi: 10.1038/s41598-019-50542-0.

15.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
16.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P.

Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23. Review.

PMID:
31476531
17.

A reappraisal of atypical absence seizures in children and adults: therapeutic implications.

Brigo F, Striano P, Belcastro V.

Expert Opin Pharmacother. 2019 Dec;20(17):2115-2120. doi: 10.1080/14656566.2019.1656716. Epub 2019 Aug 24. Review.

PMID:
31446808
18.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Canafoglia L, Barbella G, Ferlazzo E, Striano P, Magaudda A, d'Orsi G, Martino T, Avolio C, Aguglia U, Sueri C, Giuliano L, Sofia V, Zibordi F, Ragona F, Freri E, Costa C, Nardi Cesarini E, Fanella M, Rossi Sebastiano D, Riguzzi P, Gambardella A, Di Bonaventura C, Michelucci R, Granata T, Bisulli F, Licchetta L, Tinuper P, Beccaria F, Visani E, Franceschetti S.

Epilepsy Res. 2019 Oct;156:106191. doi: 10.1016/j.eplepsyres.2019.106191. Epub 2019 Aug 16.

PMID:
31446282
19.

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.

Silvennoinen K, de Lange N, Zagaglia S, Balestrini S, Androsova G, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, van der Palen J, Krause R, Depondt C, Sisodiya SM; EpiPGX Consortium.

Epilepsia Open. 2019 Jul 4;4(3):420-430. doi: 10.1002/epi4.12349. eCollection 2019 Sep.

20.

Ictal Epileptic Headache: When Terminology Is Not a Moot Question.

Parisi P, Paolino MC, Raucci U, Della Vecchia N, Belcastro V, Villa MP, Striano P.

Front Neurol. 2019 Jul 23;10:785. doi: 10.3389/fneur.2019.00785. eCollection 2019. Review.

21.

Genetic heterogeneity in infantile spasms.

Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, von Spiczak S, Weckhuysen S, Mefford HC; EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen.

Epilepsy Res. 2019 Oct;156:106181. doi: 10.1016/j.eplepsyres.2019.106181. Epub 2019 Jul 29.

PMID:
31394400
22.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

23.

Microbiota-gut brain axis involvement in neuropsychiatric disorders.

Iannone LF, Preda A, Blottière HM, Clarke G, Albani D, Belcastro V, Carotenuto M, Cattaneo A, Citraro R, Ferraris C, Ronchi F, Luongo G, Santocchi E, Guiducci L, Baldelli P, Iannetti P, Pedersen S, Petretto A, Provasi S, Selmer K, Spalice A, Tagliabue A, Verrotti A, Segata N, Zimmermann J, Minetti C, Mainardi P, Giordano C, Sisodiya S, Zara F, Russo E, Striano P.

Expert Rev Neurother. 2019 Oct;19(10):1037-1050. doi: 10.1080/14737175.2019.1638763. Epub 2019 Jul 11.

PMID:
31260640
24.

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Bernardo P, Ferretti A, Terrone G, Santoro C, Bravaccio C, Striano S, Coppola A, Striano P.

Epileptic Disord. 2019 Jun 1;21(3):271-277. doi: 10.1684/epd.2019.1071.

PMID:
31225800
25.

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Scala M, Amadori E, Fusco L, Marchese F, Capra V, Minetti C, Vari MS, Striano P.

Eur J Paediatr Neurol. 2019 Jul;23(4):657-661. doi: 10.1016/j.ejpn.2019.05.011. Epub 2019 May 24.

PMID:
31176596
26.

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Scala M, Traverso M, Capra V, Vari MS, Severino M, Grossi S, Zara F, Striano P, Minetti C.

Neuropediatrics. 2019 Aug;50(4):268-270. doi: 10.1055/s-0039-1688954. Epub 2019 May 28. No abstract available.

PMID:
31137068
27.

Epidemiology and familial clustering of pediatric epilepsy in the geographic isolate of Ischia.

Buono V, Giussani G, Bianchi E, D'Ambrosio V, Coppola A, Bilo L, Zara F, Striano P, Beghi E.

Epilepsy Res. 2019 Aug;154:86-89. doi: 10.1016/j.eplepsyres.2019.05.004. Epub 2019 May 4.

PMID:
31112901
28.

Moving beyond sodium valproate: choosing the right anti-epileptic drug in children.

Balagura G, Iapadre G, Verrotti A, Striano P.

Expert Opin Pharmacother. 2019 Aug;20(12):1449-1456. doi: 10.1080/14656566.2019.1617850. Epub 2019 May 17. Review.

PMID:
31099271
29.

Hypertension, seizures, and epilepsy: a review on pathophysiology and management.

Gasparini S, Ferlazzo E, Sueri C, Cianci V, Ascoli M, Cavalli SM, Beghi E, Belcastro V, Bianchi A, Benna P, Cantello R, Consoli D, De Falco FA, Di Gennaro G, Gambardella A, Gigli GL, Iudice A, Labate A, Michelucci R, Paciaroni M, Palumbo P, Primavera A, Sartucci F, Striano P, Villani F, Russo E, De Sarro G, Aguglia U; Epilepsy Study Group of the Italian Neurological Society.

Neurol Sci. 2019 Sep;40(9):1775-1783. doi: 10.1007/s10072-019-03913-4. Epub 2019 May 4. Review.

PMID:
31055731
30.

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS.

Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.

PMID:
30968951
31.

Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome.

Lattanzi S, Trinka E, Russo E, Striano P, Citraro R, Silvestrini M, Brigo F.

Drugs Today (Barc). 2019 Mar;55(3):177-196. doi: 10.1358/dot.2019.55.3.2909248. Review.

PMID:
30938373
32.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

33.

Familial adult myoclonic epilepsy: A new expansion repeats disorder.

Lagorio I, Zara F, Striano S, Striano P.

Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Review.

PMID:
30928698
34.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W.

Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.

PMID:
30928199
35.

GABA strikes down again in epilepsy.

Guazzi M, Striano P.

Ann Transl Med. 2019 Feb;7(3):57. doi: 10.21037/atm.2018.12.55. No abstract available.

36.

GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Verrotti A, Di Francesco L, Striano P.

Eur J Paediatr Neurol. 2019 Mar;23(2):233-234. doi: 10.1016/j.ejpn.2019.02.010. No abstract available.

PMID:
30876650
37.

An observational study of fixed-dose Tanacetum parthenium nutraceutical preparation for prophylaxis of pediatric headache.

Moscano F, Guiducci M, Maltoni L, Striano P, Ledda MG, Zoroddu F, Raucci U, Villa MP, Parisi P.

Ital J Pediatr. 2019 Mar 12;45(1):36. doi: 10.1186/s13052-019-0624-z.

38.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M.

Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.

39.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium.

Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13.

40.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
41.

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Uccella S, Accogli A, Tortora D, Mancardi MM, Nobili L, Berloco B, Morana G, Striano P, Capra V, Srour M, Saint-Martine C, Rossi A, Severino M.

J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22.

PMID:
30796522
42.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
43.

LC-MS/MS-Based Quantification of 9 Antiepileptic Drugs From a Dried Sample Spot Device.

DʼUrso A, Cangemi G, Barco S, Striano P, DʼAvolio A, de Grazia U.

Ther Drug Monit. 2019 Jun;41(3):331-339. doi: 10.1097/FTD.0000000000000600.

PMID:
30688867
44.

The impact of perampanel and targeting AMPA transmission on anti-seizure drug discovery.

Lattanzi S, Striano P.

Expert Opin Drug Discov. 2019 Mar;14(3):195-197. doi: 10.1080/17460441.2019.1566318. Epub 2019 Jan 11. No abstract available.

PMID:
30633590
45.

A synaptic protein defect associated with reflex seizure disorder.

Striano P, Huppke P.

Neurology. 2019 Jan 8;92(2):63-64. doi: 10.1212/WNL.0000000000006720. Epub 2018 Dec 12. No abstract available.

PMID:
30541867
46.

Emerging drugs for the treatment of Dravet syndrome.

Brigo F, Striano P, Balagura G, Belcastro V.

Expert Opin Emerg Drugs. 2018 Dec;23(4):261-269. doi: 10.1080/14728214.2018.1552937. Epub 2018 Dec 4. Review.

PMID:
30482063
47.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N.

Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19.

48.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM.

Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9.

49.

The pharmacological management of Lennox-Gastaut syndrome and critical literature review.

Verrotti A, Striano P, Iapadre G, Zagaroli L, Bonanni P, Coppola G, Elia M, Mecarelli O, Franzoni E, Liso P, Vigevano F, Curatolo P.

Seizure. 2018 Dec;63:17-25. doi: 10.1016/j.seizure.2018.10.016. Epub 2018 Oct 26. Review.

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

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