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Items: 1 to 50 of 447

1.

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.

2.

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
3.

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
4.

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

Brigo F, Striano P, Belcastro V.

Expert Opin Pharmacother. 2019 Aug 24:1-6. doi: 10.1080/14656566.2019.1656716. [Epub ahead of print]

PMID:
31446808
5.

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
6.

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.

7.

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.

8.

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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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
15.

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.

PMID:
31099271
16.

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
17.

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
18.

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
19.

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.

20.

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
21.

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
22.

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.

23.

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
24.

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.

25.

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.

26.

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.

27.

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
28.

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
29.

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
30.

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
31.

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
32.

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
33.

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
34.

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.

PMID:
30451291
35.

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.

36.

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.

PMID:
30391662
37.

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.

38.

Movement disorders phenomenology in focal motor seizures.

Fasano A, Di Bonaventura C, Bove F, Espay AJ, Morgante F, Fabbrini G, Munhoz RP, Andrade D, Borlot F, Bui E, Di Gennaro G, Iorio R, Katzberg H, Luigetti M, Striano P, Defazio G, Berardelli A.

Parkinsonism Relat Disord. 2019 Apr;61:161-165. doi: 10.1016/j.parkreldis.2018.10.021. Epub 2018 Oct 16.

PMID:
30361137
39.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

40.

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
41.

Correction: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Aug;21(8):1896. doi: 10.1038/s41436-018-0325-9.

PMID:
30262923
42.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

43.

Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).

Tambasco N, Paoletti FP, Prato G, Mancardi MM, Prontera P, Giordano L, Grosso S, Romeo A, Pinto F, Savasta S, Peruzzi C, Romoli M, Striano P, Verrotti A, Belcastro V; Società Italiana Neurologia Pediatrica (SINP) Collaborative Network.

Eur J Paediatr Neurol. 2018 Nov;22(6):1081-1086. doi: 10.1016/j.ejpn.2018.08.004. Epub 2018 Aug 29.

PMID:
30195408
44.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Jul;21(7):1671. doi: 10.1038/s41436-018-0284-1.

PMID:
30158694
45.

"Ictal epileptic headache" and the revised International Headache Classification (ICHD-3) published in Cephalalgia 2018, vol. 38(1) 1-211: Not just a matter of definition!

Parisi P, Belcastro V, Verrotti A, Striano P, Kasteleijn-Nolst Trenitè DGA.

Epilepsy Behav. 2018 Oct;87:243-245. doi: 10.1016/j.yebeh.2018.07.018. Epub 2018 Aug 14. No abstract available.

PMID:
30115602
46.

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Dilena R, DiFrancesco JC, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, Galli MA, Guez S, Fumagalli M, Miceli F, Cattaneo D, Darra F, Gennaro E, Zara F, Striano P, Castellotti B, Gellera C, Varesio C, Veggiotti P, Taglialatela M.

Neurotherapeutics. 2018 Oct;15(4):1112-1126. doi: 10.1007/s13311-018-0657-9.

47.

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Verrotti A, Greco M, Varriale G, Tamborino A, Savasta S, Carotenuto M, Elia M, Operto F, Margari L, Belcastro V, Selicorni A, Freri E, Matricardi S, Granata T, Ragona F, Capovilla G, Spalice A, Coppola G, Striano P.

Acta Neurol Scand. 2018 Dec;138(6):523-530. doi: 10.1111/ane.13006. Epub 2018 Aug 14.

PMID:
30109707
48.

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 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

49.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.

Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Erratum in: Genet Med. 2018 Aug 29;:. Genet Med. 2018 Sep 27;:.

50.

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P.

Cytogenet Genome Res. 2018 Aug 8. doi: 10.1159/000491871. [Epub ahead of print]

PMID:
30086552

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