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Items: 1 to 50 of 833

1.

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R.

Neurol Genet. 2020 Jan 2;6(1):e387. doi: 10.1212/NXG.0000000000000387. eCollection 2020 Feb.

2.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS.

Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec.

3.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C.

Eur J Hum Genet. 2020 Jan 31. doi: 10.1038/s41431-020-0571-6. [Epub ahead of print]

PMID:
32005960
4.

Cu(II) coordination to His-containing linear peptides and related branched ones: Equalities and diversities.

Perinelli M, Guerrini R, Albanese V, Marchetti N, Bellotti D, Gentili S, Tegoni M, Remelli M.

J Inorg Biochem. 2020 Jan 3;205:110980. doi: 10.1016/j.jinorgbio.2019.110980. [Epub ahead of print]

PMID:
31931375
5.

Neuropeptide S-initiated sequential cascade mediated by OX1, NK1, mGlu5 and CB1 receptors: a pivotal role in stress-induced analgesia.

Lee MT, Chiu YT, Chiu YC, Hor CC, Lee HJ, Guerrini R, Calo G, Chiou LC.

J Biomed Sci. 2020 Jan 9;27(1):7. doi: 10.1186/s12929-019-0590-1.

6.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Mei D, Cetica V, Marini C, Guerrini R.

Epilepsia. 2019 Dec;60 Suppl 3:S2-S7. doi: 10.1111/epi.16054.

PMID:
31904125
7.

Dravet syndrome and other sodium channel-related encephalopathies.

Guerrini R, Cross H, Nabbout R, Dalla Bernardina B.

Epilepsia. 2019 Dec;60 Suppl 3:S1. doi: 10.1111/epi.16286. No abstract available.

PMID:
31904121
8.

Dravet syndrome: Treatment options and management of prolonged seizures.

Cross JH, Caraballo RH, Nabbout R, Vigevano F, Guerrini R, Lagae L.

Epilepsia. 2019 Dec;60 Suppl 3:S39-S48. doi: 10.1111/epi.16334.

PMID:
31904119
9.

Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype.

Guerrini R.

Dev Med Child Neurol. 2019 Dec 26. doi: 10.1111/dmcn.14445. [Epub ahead of print] No abstract available.

PMID:
31879938
10.

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.

Barba C, Cross JH, Braun K, Cossu M, Klotz KA, De Masi S, Perez Jiménez MA, Gaily E, Specchio N, Cabral P, Toulouse J, Dimova P, Battaglia D, Freri E, Consales A, Cesaroni E, Tarta-Arsene O, Gil-Nagel A, Mindruta I, Di Gennaro G, Giulioni M, Tisdall MM, Eltze C, Tahir MZ, Jansen F, van Rijen P, Sanders M, Tassi L, Francione S, Lo Russo G, Jacobs J, Bast T, Matta G, Budke M, Fournier Del Castillo C, Metsahonkala EL, Karppinen A, Ferreira JC, Minkin K, Marras CE; European Survey Group, Arzimanoglou A, Guerrini R.

Epilepsia. 2019 Dec 26. doi: 10.1111/epi.16414. [Epub ahead of print]

PMID:
31876960
11.

Lesional and non-lesional epilepsies: A blurring genetic boundary.

Guerrini R, Parrini E, Esposito A, Fassio A, Conti V.

Eur J Paediatr Neurol. 2019 Dec 12. pii: S1090-3798(19)30433-7. doi: 10.1016/j.ejpn.2019.12.013. [Epub ahead of print] Review.

PMID:
31875834
12.

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.

Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group.

Lancet. 2020 Dec 21;394(10216):2243-2254. doi: 10.1016/S0140-6736(19)32500-0. Epub 2019 Dec 17.

PMID:
31862249
13.

Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients.

Giordano F, Moscheo C, Lenge M, Biagiotti R, Mari F, Sardi I, Buccoliero AM, Mongardi L, Aronica E, Guerrini R, Genitori L.

Childs Nerv Syst. 2019 Dec 18. doi: 10.1007/s00381-019-04449-w. [Epub ahead of print]

PMID:
31853898
14.

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M.

Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19.

PMID:
31836334
15.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA.

Genet Med. 2019 Nov 28. doi: 10.1038/s41436-019-0703-y. [Epub ahead of print]

PMID:
31776469
16.

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A.

Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5.

17.

Thermodynamic and spectroscopic study of Cu(ii) and Zn(ii) complexes with the (148-156) peptide fragment of C4YJH2, a putative metal transporter of Candida albicans.

Bellotti D, Tocchio C, Guerrini R, Rowińska-Żyrek M, Remelli M.

Metallomics. 2019 Dec 11;11(12):1988-1998. doi: 10.1039/c9mt00251k.

PMID:
31737884
18.

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions.

Auvin S, Avbersek A, Bast T, Chiron C, Guerrini R, Kaminski RM, Lagae L, Muglia P, Cross JH.

Drugs. 2019 Dec;79(18):1917-1935. doi: 10.1007/s40265-019-01223-9. Review.

PMID:
31734883
19.

Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb.

Bartolini E, Cosottini M, Costagli M, Barba C, Tassi L, Spreafico R, Garbelli R, Biagi L, Buccoliero A, Giordano F, Guerrini R.

AJNR Am J Neuroradiol. 2019 Dec;40(12):2137-2142. doi: 10.3174/ajnr.A6298. Epub 2019 Nov 14.

20.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A.

Mol Genet Metab. 2020 Feb;129(2):47-58. doi: 10.1016/j.ymgme.2019.09.005. Epub 2019 Oct 31. Review.

PMID:
31711734
21.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R.

Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326.

PMID:
31688942
22.

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.

23.

Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study.

Rosati A, Boncristiano A, Doccini V, Pugi A, Pisano T, Lenge M, De Masi S, Guerrini R.

Epilepsia. 2019 Nov;60(11):2255-2262. doi: 10.1111/epi.16363. Epub 2019 Oct 20.

PMID:
31630399
24.

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

Mastrangelo M, Mei D, Cesario S, Fioriello F, Bernardini L, Brinciotti M, Guerrini R, Leuzzi V.

Parkinsonism Relat Disord. 2019 Nov;68:1-3. doi: 10.1016/j.parkreldis.2019.09.016. Epub 2019 Sep 18. No abstract available.

PMID:
31621611
25.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE.

Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619.

PMID:
31618474
26.

Cyclic Peptides Acting as Allosteric Inhibitors of Human Thymidylate Synthase and Cancer Cell Growth.

Pacifico S, Santucci M, Luciani R, Saxena P, Linciano P, Ponterini G, Lauriola A, D'Arca D, Marverti G, Guerrini R, Costi MP.

Molecules. 2019 Sep 26;24(19). pii: E3493. doi: 10.3390/molecules24193493.

27.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D.

Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct.

28.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R.

Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4.

PMID:
31513310
29.

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Oegema R, Barkovich AJ, Mancini GMS, Guerrini R, Dobyns WB.

Neurology. 2019 Oct 1;93(14):e1360-e1373. doi: 10.1212/WNL.0000000000008200. Epub 2019 Sep 4.

30.

Bioinorganic chemistry of calcitermin - the picklock of its antimicrobial activity.

Bellotti D, Toniolo M, Dudek D, Mikołajczyk A, Guerrini R, Matera-Witkiewicz A, Remelli M, Rowińska-Żyrek M.

Dalton Trans. 2019 Sep 28;48(36):13740-13752. doi: 10.1039/c9dt02869b. Epub 2019 Sep 2.

PMID:
31475275
31.

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mastrangelo M, Alfonsi C, Screpanti I, Masuelli L, Tavazzi B, Mei D, Giannotti F, Guerrini R, Leuzzi V.

Mol Genet Metab Rep. 2019 Aug 21;21:100502. doi: 10.1016/j.ymgmr.2019.100502. eCollection 2019 Dec.

32.

Tetrabranched Hetero-Conjugated Peptides as Bifunctional Agonists of the NOP and Mu Opioid Receptors.

Pacifico S, Albanese V, Illuminati D, Fantinati A, Marzola E, Ferrari F, Neto JA, Sturaro C, Ruzza C, Calò G, Preti D, Guerrini R.

Bioconjug Chem. 2019 Sep 18;30(9):2444-2451. doi: 10.1021/acs.bioconjchem.9b00519. Epub 2019 Sep 4.

PMID:
31461266
33.

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A.

Hum Mol Genet. 2019 Nov 15;28(22):3755-3765. doi: 10.1093/hmg/ddz194.

PMID:
31411685
34.

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
35.

Automatic detection and sonification of nonmotor generalized onset epileptic seizures: Preliminary results.

Frassineti L, Barba C, Melani F, Piras F, Guerrini R, Manfredi C.

Brain Res. 2019 Oct 15;1721:146341. doi: 10.1016/j.brainres.2019.146341. Epub 2019 Jul 19.

PMID:
31326404
36.

Dopamine D1 and D2 receptors mediate neuropeptide S-induced antinociception in the mouse formalin test.

Holanda VAD, Oliveira MC, Souza LS, Lobão-Soares B, André E, Da Silva Junior ED, Guerrini R, Calo G, Ruzza C, Gavioli EC.

Eur J Pharmacol. 2019 Sep 15;859:172557. doi: 10.1016/j.ejphar.2019.172557. Epub 2019 Jul 18.

PMID:
31326375
37.

Generalized epilepsies.

Guerrini R, Marini C, Barba C.

Handb Clin Neurol. 2019;161:3-15. doi: 10.1016/B978-0-444-64142-7.00038-2. Review.

PMID:
31307608
38.

What is the role of next generation sequencing in status epilepticus?

Guerrini R, Parrini E, Marini C, Mei D.

Epilepsy Behav. 2019 Dec;101(Pt B):106373. doi: 10.1016/j.yebeh.2019.06.017. Epub 2019 Jul 9. Review.

PMID:
31300382
39.

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R.

Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175.

PMID:
31257402
40.

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy.

Pitkänen A, Henshall DC, Cross JH, Guerrini R, Jozwiak S, Kokaia M, Simonato M, Sisodiya S, Mifsud J.

Epilepsia. 2019 Jul;60(7):1281-1292. doi: 10.1111/epi.16091. Epub 2019 Jun 18. Review.

PMID:
31211425
41.

Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.

Kobow K, Ziemann M, Kaipananickal H, Khurana I, Mühlebner A, Feucht M, Hainfellner JA, Czech T, Aronica E, Pieper T, Holthausen H, Kudernatsch M, Hamer H, Kasper BS, Rössler K, Conti V, Guerrini R, Coras R, Blümcke I, El-Osta A, Kaspi A.

Epilepsia. 2019 Jun;60(6):1091-1103. doi: 10.1111/epi.14934. Epub 2019 May 10.

42.

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.

Bisulli F, Licchetta L, Baldassari S, Muccioli L, Marconi C, Cantalupo G, Myers C, Menghi V, Minardi R, Caporali L, Marini C, Guerrini R, Mefford HC, Tinuper P, Pippucci T.

Epileptic Disord. 2019 Apr 1;21(2):185-191. doi: 10.1684/epd.2019.1046.

PMID:
30977726
43.

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
44.

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.

45.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

46.

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures.

Nabbout R, Auvin S, Chiron C, Thiele E, Cross H, Scheffer IE, Schneider AL, Guerrini R, Williamson N; Zogenix and Adelphi Values study group.

Dev Med Child Neurol. 2019 Oct;61(10):1229-1236. doi: 10.1111/dmcn.14186. Epub 2019 Mar 4.

PMID:
30828793
47.

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience.

de Palma L, Pietrafusa N, Gozzo F, Barba C, Carfi-Pavia G, Cossu M, De Benedictis A, Genitori L, Giordano F, Russo GL, Marras CE, Pelliccia V, Rizzi S, Rossi-Espagnet C, Vigevano F, Guerrini R, Tassi L, Specchio N.

Epilepsy Behav. 2019 Apr;93:22-28. doi: 10.1016/j.yebeh.2019.01.006. Epub 2019 Feb 16.

PMID:
30780077
48.

Clinical spectrum of STX1B-related epileptic disorders.

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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.

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PMID:
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NOP-Targeted Peptide Ligands.

Preti D, Caló G, Guerrini R.

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