Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, et al. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018;50:581–90.

Article  CAS  PubMed  Google Scholar 

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, et al. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun. 2019;10:4920.

Article  PubMed  PubMed Central  Google Scholar 

Florian RT, Kraft F, Leitao E, Kaya S, Klebe S, Magnin E, et al. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with familial adult myoclonic epilepsy type 3. Nat Commun. 2019;10:4919.

Article  PubMed  PubMed Central  Google Scholar 

Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, et al. TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. Brain. 2019;142:3360–66.

Article  PubMed  Google Scholar 

Hitomi T, Kondo T, Kobayashi K, Matsumoto R, Takahashi R, Ikeda A. Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy. Epilepsia. 2012;53:e33–6.

Article  PubMed  Google Scholar 

Neshige S, Hitomi T, Tojima M, Oi K, Kobayashi K, Matsuhashi M, et al. A role of aging in the progression of cortical excitability in benign adult familial myoclonus epilepsy type 1 patients. Mov Disord. 2021;36:2446–48.

Article  PubMed  Google Scholar 

Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, et al. DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. J Hum Genet. 2021;66:419–29.

Article  CAS  PubMed  Google Scholar 

Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, et al. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment. Brain. 2021;144:1103–17.

Article  PubMed  Google Scholar 

Lei XX, Liu Q, Lu Q, Huang Y, Zhou XQ, Sun HY, et al. TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy. Eur J Neurol. 2019;26:513–18.

Article  CAS  PubMed  Google Scholar 

Liu C, Song Y, Yuan Y, Peng Y, Pang N, Duan R, et al. TTTCA repeat expansion of SAMD12 in a new benign adult familial myoclonic epilepsy pedigree. Front Neurol. 2020;11:68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pan S, Li X, Li L, Lin H, Wang D, Zhang X, et al. Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations. Seizure. 2021;87:69–74.

Article  PubMed  Google Scholar 

Zhou Y, Sood R, Wang Q, Carrington B, Park M, Young AC, et al. Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. Epilepsia Open. 2021;6:102–11.

Article  PubMed  PubMed Central  Google Scholar 

Miyatake S, Koshimizu E, Fujita A, Doi H, Okubo M, Wada T, et al. Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ Genom Med. 2022;7:62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hitomi T, Kobayashi K, Jingami N, Nakagawa T, Imamura H, Matsumoto R, et al. Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. Epileptic Disord. 2013;15:428–32.

Article  PubMed  Google Scholar 

Holmans PA, Massey TH, Jones L. Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders. Hum Mol Genet. 2017;26:R83–90.

Article  CAS  PubMed  Google Scholar 

Maroilley T, Tsai MH, Mascarenhas R, Diao C, Khanbabaei M, Kaya S, et al. A novel FAME1 repeat configuration in a European family identified using a combined genomics approach. Epilepsia Open. 2023. https://doi.org/10.1002/epi4.12702.

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