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Items: 1 to 20 of 434

1.

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 May 4;154:86-89. doi: 10.1016/j.eplepsyres.2019.05.004. [Epub ahead of print]

PMID:
31112901
2.

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

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

Expert Opin Pharmacother. 2019 May 17:1-8. doi: 10.1080/14656566.2019.1617850. [Epub ahead of print]

PMID:
31099271
3.

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 May 4. doi: 10.1007/s10072-019-03913-4. [Epub ahead of print] Review.

PMID:
31055731
4.

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
5.

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
6.

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.

7.

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
8.

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 Mar 7. pii: S1090-3798(19)30006-6. doi: 10.1016/j.ejpn.2019.03.001. [Epub ahead of print]

PMID:
30928199
9.

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.

10.

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
11.

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.

12.

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.

13.

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, 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.

14.

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 Feb 28. doi: 10.1002/humu.23731. [Epub ahead of print]

PMID:
30817854
15.

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
16.

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
17.

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
18.

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
19.

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
20.

Emerging drugs for the treatment of Dravet syndrome.

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

Expert Opin Emerg Drugs. 2018 Nov 27. doi: 10.1080/14728214.2018.1552937. [Epub ahead of print]

PMID:
30482063

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