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Page 1
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. Brain. 2024 Apr 20:awae121. doi: 10.1093/brain/awae121. Online ahead of print. Brain. 2024. PMID: 38643018
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. 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. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468
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. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Eriksson MH, Whitaker KJ, Booth J, Piper RJ, Chari A, Martin Sanfilippo P, Caballero AP, Menzies L, McTague A, Adler S, Wagstyl K, Tisdall MM, Cross JH, Baldeweg T. Eriksson MH, et al. Epilepsia. 2023 Sep;64(9):2260-2273. doi: 10.1111/epi.17670. Epub 2023 Jul 21. Epilepsia. 2023. PMID: 37264783 Free PMC article.
Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?
Eriksson MH, Ripart M, Piper RJ, Moeller F, Das KB, Eltze C, Cooray G, Booth J, Whitaker KJ, Chari A, Martin Sanfilippo P, Perez Caballero A, Menzies L, McTague A, Tisdall MM, Cross JH, Baldeweg T, Adler S, Wagstyl K. Eriksson MH, et al. Epilepsia. 2023 Aug;64(8):2014-2026. doi: 10.1111/epi.17637. Epub 2023 Jun 16. Epilepsia. 2023. PMID: 37129087 Free PMC article.
54 results