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Page 1
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Symonds JD, Park KL, Mignot C, Macleod S, Armstrong M, Ashrafian H, Bernard G, Brown K, Brunklaus A, Callaghan M, Classen G, Cohen JS, Cutcutache I, de Sainte Agathe JM, Dyment D, Elliot KS, Isapof A, Joss S, Keren B, Marble M, McTague A, Osmond M, Page M, Planes M, Platzer K, Redon S, Reese J, Saenz M, Smith-Hicks C, Stobo D, Stockhaus C, Vuillaume ML, Wolf NI, Wakeling EL, Yoon G, Knight JC, Zuberi SM. Symonds JD, et al. Among authors: mctague a. Epilepsia. 2024 Nov;65(11):3303-3323. doi: 10.1111/epi.18115. Epub 2024 Sep 30. Epilepsia. 2024. PMID: 39348199
Author Correction: Developmental and epileptic encephalopathies.
Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A. Scheffer IE, et al. Among authors: mctague a. Nat Rev Dis Primers. 2024 Sep 13;10(1):66. doi: 10.1038/s41572-024-00558-2. Nat Rev Dis Primers. 2024. PMID: 39271712 No abstract available.
Developmental and epileptic encephalopathies.
Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A. Scheffer IE, et al. Among authors: mctague a. Nat Rev Dis Primers. 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. Nat Rev Dis Primers. 2024. PMID: 39237642 Review.
Epilepsies.
McTague A, Scheffer IE, Kullmann DM, Sisodiya S. McTague A, et al. Handb Clin Neurol. 2024;203:157-184. doi: 10.1016/B978-0-323-90820-7.00016-1. Handb Clin Neurol. 2024. PMID: 39174247 Review.
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?
Eriksson MH, Prentice F, Piper RJ, Wagstyl K, Adler S, Chari A, Booth J, Moeller F, Das K, Eltze C, Cooray G, Perez Caballero A, Menzies L, McTague A, Shavel-Jessop S, Tisdall MM, Cross JH, Martin Sanfilippo P, Baldeweg T. Eriksson MH, et al. Among authors: mctague a. Brain. 2024 Aug 1;147(8):2791-2802. doi: 10.1093/brain/awae121. Brain. 2024. PMID: 38643018 Free PMC article.
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G. AlMail A, et al. Among authors: mctague a. NPJ Genom Med. 2024 Apr 6;9(1):27. doi: 10.1038/s41525-024-00408-w. NPJ Genom Med. 2024. PMID: 38582909 Free PMC article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: mctague a. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM, Ellis CA, Berkovic SF; ILAE Genetics Commission; ILAE Genetic Literacy Task Force. Cameron JM, et al. Epileptic Disord. 2023 Oct;25(5):670-680. doi: 10.1002/epd2.20152. Epub 2023 Sep 6. Epileptic Disord. 2023. PMID: 37616028 Free PMC article. Review.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: mctague a. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
59 results