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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB. Dobson-Stone C, et al. Among authors: bennett mf. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M. Bennett MF, et al. Eur J Hum Genet. 2020 Jul;28(7):973-978. doi: 10.1038/s41431-020-0606-z. Epub 2020 Mar 16. Eur J Hum Genet. 2020. PMID: 32203200 Free PMC article.
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.
Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V. Yeetong P, et al. Among authors: bennett mf. Eur J Hum Genet. 2021 Feb;29(2):343-348. doi: 10.1038/s41431-020-00729-1. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973343 Free PMC article.
Transcriptome analysis of a ring chromosome 20 patient cohort.
Myers KA, Bennett MF, Hildebrand MS, Coleman MJ, Zhou G, Hollingsworth G, Cairns A, Riney K, Berkovic SF, Bahlo M, Scheffer IE. Myers KA, et al. Among authors: bennett mf. Epilepsia. 2021 Jan;62(1):e22-e28. doi: 10.1111/epi.16766. Epub 2020 Nov 18. Epilepsia. 2021. PMID: 33207017
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS, Bagnall RD, Bennett MF, Bleakley LE, Mohamed Syazwan ES, Phillips AM, Chiam MDF, McKenzie CE, Hildebrand M, Crompton D, Bahlo M, Semsarian C, Scheffer IE, Berkovic SF, Reid CA. Soh MS, et al. Among authors: bennett mf. Ann Clin Transl Neurol. 2021 Jul;8(7):1422-1432. doi: 10.1002/acn3.51381. Epub 2021 May 18. Ann Clin Transl Neurol. 2021. PMID: 34002542 Free PMC article.
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. Heron SE, et al. Among authors: bennett mf. Neurology. 2021 May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23. Neurology. 2021. PMID: 34038384 Free PMC article.
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