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

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

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

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

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

(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

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

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

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

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

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

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

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

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

Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

Takeshi,Mizuguchi, Tomoko,Toyota, Satoko,Miyatake, Satomi,Mitsuhashi, Hiroshi,Doi, Yosuke,Kudo, Hitaru,Kishida, Noriko,Hayashi, Rie S,Tsuburaya, Masako,Kinoshita, Tetsuhiro,Fukuyama, Hiromi,Fukuda, Eriko,Koshimizu, Naomi,Tsuchida, Yuri,Uchiyama, Atsushi,Fujita, Atsushi,Takata, Noriko,Miyake, Mitsuhiro,Kato, Fumiaki,Tanaka, Hiroaki,Adachi, Naomichi,Matsumoto

Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.

Sipei,Pan, Xuying,Li, Liping,Li, Hua,Lin, Dequan,Wang, Xiating,Zhang, Xin,Zhao, Jing,Ye, Zhaoyang,Huang, Yicong,Lin, Yiran,Duan, Rui,Ma, Lehong,Gao, Chaodong,Wang, Yuping,Wang