FAME1 SAMD12

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2025-05-15

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.

Zhidong,Cen, Zhengwen,Jiang, You,Chen, Xiaosheng,Zheng, Fei,Xie, Xiaodong,Yang, Xingjiao,Lu, Zhiyuan,Ouyang, Hongwei,Wu, Si,Chen, Houmin,Yin, Xia,Qiu, Shuang,Wang, Meiping,Ding, Yelei,Tang, Feng,Yu, Caihua,Li, Tao,Wang, Hiroyuki,Ishiura, Shoji,Tsuji, Chuan,Jiao, Chunyu,Liu, Jianfeng,Xiao, Wei,Luo

Brain : a journal of neurology · 2018-08-01

Phenotypic and genotypic characterization of familial adult myoclonus epilepsy in a Chinese case series.

Sheng,Zeng, Yao,Zhou, Yuwen,Zhao, Mingqiang,Li, Chaojun,Zhou, Xuejing,Wang, Hui,Quan, Tiandong,Che, Jinchen,Li, Qiying,Sun, Beisha,Tang

Brain communications · 2025-06-04

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Hiroyuki,Ishiura, Koichiro,Doi, Jun,Mitsui, Jun,Yoshimura, Miho Kawabe,Matsukawa, Asao,Fujiyama, Yasuko,Toyoshima, Akiyoshi,Kakita, Hitoshi,Takahashi, Yutaka,Suzuki, Sumio,Sugano, Wei,Qu, Kazuki,Ichikawa, Hideaki,Yurino, Koichiro,Higasa, Shota,Shibata, Aki,Mitsue, Masaki,Tanaka, Yaeko,Ichikawa, Yuji,Takahashi, Hidetoshi,Date, Takashi,Matsukawa, Junko,Kanda, Fumiko Kusunoki,Nakamoto, Mana,Higashihara, Koji,Abe, Ryoko,Koike, Mutsuo,Sasagawa, Yasuko,Kuroha, Naoya,Hasegawa, Norio,Kanesawa, Takayuki,Kondo, Takefumi,Hitomi, Masayoshi,Tada, Hiroki,Takano, Yutaka,Saito, Kazuhiro,Sanpei, Osamu,Onodera, Masatoyo,Nishizawa, Masayuki,Nakamura, Takeshi,Yasuda, Yoshio,Sakiyama, Mieko,Otsuka, Akira,Ueki, Ken-Ichi,Kaida, Jun,Shimizu, Ritsuko,Hanajima, Toshihiro,Hayashi, Yasuo,Terao, Satomi,Inomata-Terada, Masashi,Hamada, Yuichiro,Shirota, Akatsuki,Kubota, Yoshikazu,Ugawa, Kishin,Koh, Yoshihisa,Takiyama, Natsumi,Ohsawa-Yoshida, Shoichi,Ishiura, Ryo,Yamasaki, Akira,Tamaoka, Hiroshi,Akiyama, Taisuke,Otsuki, Akira,Sano, Akio,Ikeda, Jun,Goto, Shinichi,Morishita, Shoji,Tsuji

Nature genetics · 2018-03-05

(TTTCA)exp Drives the Genotype-Phenotype Correlation and Genetic Anticipation in FCMTE1.

Xinhui,Chen, Bo,Wang, Haibin,Xia, Haotian,Wang, Dehao,Yang, Miao,Chen, Huijun,Yu, Fan,Zhang, Yixin,Kang, Yiling,Chen, Nan,Jin, Lebo,Wang, Peng,Liu, Fei,Xie, Aisi,Fu, Ben,Hu, Zhiyuan,Ouyang, Sheng,Wu, Yao,Ding, Junfeng,Ji, Shuang,Wang, Wei,Luo, Zhidong,Cen

Movement disorders : official journal of the Movement Disorder Society · 2024-11-21

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

Joke J F A,van Vugt, Ramona A J,Zwamborn, Egor,Dolzhenko, Michael A,Eberle, Ben,Weisburd, Erwin,Bekema, Maarten,Kooyman, Bi-Nan,Wang, Erik-Jan,Kamsteeg, Monique,Losekoot, Frank,Baas, Camilla,Novy, Helle,Høyer, Ruben P A,van Eijk, Michael A,van Es, Wouter,van Rheenen, Ammar,Al-Chalabi, Leonard H,van den Berg, Jan H,Veldink

Brain communications · 2025-12-09

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

Haruka,Urabe, Takashi,Nakajima, Satomi,Mitsuhashi, Kentaro,Ohta, Hidehiko,Fujinaka, Kiyoe,Goto, Aki,Sato

BMC medical genomics · 2025-11-11

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Brain communications · 2024-06-29

Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus.

Xinhui,Chen, Fan,Zhang, Yihua,Shi, Haotian,Wang, Miao,Chen, Dehao,Yang, Lebo,Wang, Peng,Liu, Fei,Xie, Jiawen,Chen, Aisi,Fu, Ben,Hu, Bo,Wang, Zhiyuan,Ouyang, Sheng,Wu, Zhiru,Lin, Zhidong,Cen, Wei,Luo

European journal of human genetics : EJHG · 2024-03-12

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.

Yao,Ding, Zhidong,Cen, Yang,Zheng, Xia,Qiu, Yumao,Ye, Xinhui,Chen, Lingli,Hu, Bo,Wang, Zhongjin,Wang, Houmin,Yin, Chunhong,Shen, Wenjie,Ming, Yi,Ge, Fei,Xie, Dehao,Yang, Zhiyuan,Ouyang, Haotian,Wang, Sheng,Wu, Meiping,Ding, Shuang,Wang, Wei,Luo

Annals of clinical and translational neurology · 2023-12-07

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

Takeshi,Mizuguchi, Tomoko,Toyota, Eriko,Koshimizu, Shinichi,Kameyama, Hiromi,Fukuda, Naomi,Tsuchida, Yuri,Uchiyama, Kohei,Hamanaka, Atsushi,Fujita, Kazuharu,Misawa, Satoko,Miyatake, Hiroaki,Adachi, Naomichi,Matsumoto

Journal of human genetics · 2023-08-18

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.

Tatiana,Maroilley, Meng-Han,Tsai, Rumika,Mascarenhas, Catherine,Diao, Maryam,Khanbabaei, Sabine,Kaya, Christel,Depienne, Maja,Tarailo-Graovac, Karl Martin,Klein

Epilepsia open · 2023-02-16

Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.

Christel,Depienne, Arn M J M,van den Maagdenberg, Theresa,Kühnel, Hiroyuki,Ishiura, Mark A,Corbett, Shoji,Tsuji

Epilepsia · 2023-01-22

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

C Alejandra,Morato Torres, Faria,Zafar, Yu-Chih,Tsai, Jocelyn Palafox,Vazquez, Michael D,Gallagher, Ian,McLaughlin, Karl,Hong, Jill,Lai, Joyce,Lee, Amanda,Chirino-Perez, Angel Omar,Romero-Molina, Francisco,Torres, Juan,Fernandez-Ruiz, Tetsuo,Ashizawa, Janet,Ziegle, Francisco Javier,Jiménez Gil, Birgitt,Schüle

HGG advances · 2022-08-15