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Page 1
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: sisodiya sm. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: sisodiya sm. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: sisodiya sm. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
COVID-19 response in a long-term care facility for people with epilepsy.
Delazer L, Pressler N, Balestrini S, Xiao F, Clayton LM, Anders-Cannon J, Salvatierra R, Henry I, Sisodiya SM, Sander JW, Koepp MJ. Delazer L, et al. Among authors: sisodiya sm. Epilepsia Open. 2024 Apr 9. doi: 10.1002/epi4.12940. Online ahead of print. Epilepsia Open. 2024. PMID: 38593277 Free article.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Among authors: sisodiya sm. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, Bernhardt BC. Chen J, et al. Among authors: sisodiya sm. bioRxiv [Preprint]. 2024 Mar 6:2024.03.02.583073. doi: 10.1101/2024.03.02.583073. bioRxiv. 2024. PMID: 38496668 Free PMC article. Preprint.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH. Kerestes R, et al. Among authors: sisodiya sm. Epilepsia. 2024 Apr;65(4):1072-1091. doi: 10.1111/epi.17881. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38411286 Free article.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Coppola A, et al. Among authors: sisodiya sm. Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23. Epilepsia. 2024. PMID: 38088023 Free article.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH; ENIGMA-Epilepsy Working Group. Kerestes R, et al. Among authors: sisodiya sm. bioRxiv [Preprint]. 2023 Oct 23:2023.10.21.562994. doi: 10.1101/2023.10.21.562994. bioRxiv. 2023. PMID: 37961570 Free PMC article. Updated. Preprint.
394 results