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Items: 1 to 50 of 813

1.

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 Nov 5. pii: awz326. doi: 10.1093/brain/awz326. [Epub ahead of print]

PMID:
31688942
2.

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.

3.

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
4.

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 Sep 18;68:1-3. doi: 10.1016/j.parkreldis.2019.09.016. [Epub ahead of print] No abstract available.

PMID:
31621611
5.

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, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE.

Ann Neurol. 2019 Oct 16. doi: 10.1002/ana.25619. [Epub ahead of print]

PMID:
31618474
6.

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.

7.

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.

8.

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. 2019 Sep 12. doi: 10.1002/humu.23915. [Epub ahead of print]

PMID:
31513310
9.

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.

PMID:
31484711
10.

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
11.

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.

12.

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
13.

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 Aug 14. pii: ddz194. doi: 10.1093/hmg/ddz194. [Epub ahead of print]

PMID:
31411685
14.

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
15.

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
16.

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
17.

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.

PMID:
31307608
18.

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

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

Epilepsy Behav. 2019 Jul 9. pii: S1525-5050(19)30491-3. doi: 10.1016/j.yebeh.2019.06.017. [Epub ahead of print] Review.

PMID:
31300382
19.

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
20.

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
21.

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.

22.

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
23.

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
24.

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.

25.

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.

26.

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
27.

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
28.

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 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8.

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.

NOP-Targeted Peptide Ligands.

Preti D, Caló G, Guerrini R.

Handb Exp Pharmacol. 2019;254:17-36. doi: 10.1007/164_2018_198.

PMID:
30689091
31.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R.

Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25.

PMID:
30683929
32.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

33.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE.

Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12.

34.

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.

Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G.

Neurol Sci. 2019 Mar;40(3):447-456. doi: 10.1007/s10072-018-3666-x. Epub 2018 Dec 12. Review.

35.

Pharmacological profile of the neuropeptide S receptor: Dynamic mass redistribution studies.

Ruzza C, Ferrari F, Guerrini R, Marzola E, Preti D, Reinscheid RK, Calo G.

Pharmacol Res Perspect. 2018 Dec 3;6(6):e00445. doi: 10.1002/prp2.445. eCollection 2018 Dec.

36.

Probing the Effect of Sildenafil on Progesterone and Testosterone Production by an Intracellular FRET/BRET Combined Approach.

Casarini L, Riccetti L, Limoncella S, Lazzaretti C, Barbagallo F, Pacifico S, Guerrini R, Tagliavini S, Trenti T, Simoni M, Sola M, Di Rocco G.

Biochemistry. 2019 Feb 12;58(6):799-808. doi: 10.1021/acs.biochem.8b01073. Epub 2018 Dec 21.

PMID:
30532959
37.

Disordered Peptides Looking for Their Native Environment: Structural Basis of CB1 Endocannabinoid Receptor Binding to Pepcans.

Emendato A, Guerrini R, Marzola E, Wienk H, Boelens R, Leone S, Picone D.

Front Mol Biosci. 2018 Nov 16;5:100. doi: 10.3389/fmolb.2018.00100. eCollection 2018.

38.

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.

39.

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
40.

Nociceptin/Orphanin FQ and Urinary Bladder.

Angelico P, Barchielli M, Lazzeri M, Guerrini R, Caló G.

Handb Exp Pharmacol. 2019;254:347-365. doi: 10.1007/164_2018_182.

PMID:
30430260
41.

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.

42.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A.

J Neurol. 2019 Jan;266(1):92-101. doi: 10.1007/s00415-018-9084-4. Epub 2018 Oct 31.

43.

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.

44.

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

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