keyword
https://read.qxmd.com/read/32973343/founder-effect-of-the-tttca-repeat-insertions-in-samd12-causing-bafme1
#1
Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, Mark F Bennett, Chalurmpon Srichomthong, Nath Pasutharnchat, Kanya Suphapeetiporn, Melanie Bahlo, Vorasuk Shotelersuk
Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)446 (TTTCA)149 in intron 4 of SAMD12 in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status...
September 24, 2020: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/32815989/treatment-effect-of-bone-anchored-maxillary-protraction-in-growing-patients-compared-to-controls-a-systematic-review-with-meta-analysis
#2
Marie A Cornelis, Michele Tepedino, Neel de Vos Riis, Xiaowen Niu, Paolo M Cattaneo
OBJECTIVE: The aim of this systematic review was to determine which evidence level supports maxillary advancement after bone-anchored maxillary protraction (BAMP) in growing patients compared to controls. SEARCH METHODS: PubMed, Cochrane, Embase, Scopus, and Web-of-Science databases were searched with no restrictions on publication status or year. SELECTION CRITERIA: Prospective and retrospective human studies about BAMP, in at least three patients, were included...
August 20, 2020: European Journal of Orthodontics
https://read.qxmd.com/read/32654954/fifteen-year-follow-up-of-a-patient-with-a-dhdds-variant-with-non-progressive-early-onset-myoclonic-tremor-and-rare-generalized-epilepsy
#3
Noriko Togashi, Atsushi Fujita, Moriei Shibuya, Saki Uneoka, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Kazutaka Jin, Naomichi Matsumoto, Kazuhiro Haginoya
BACKGROUND: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. CASE PRESENTATION: We report on a long term follow-up of patient with de novo missense variant of DHDDS, who revealed non progressive nature...
July 9, 2020: Brain & Development
https://read.qxmd.com/read/32174879/tttca-repeat-expansion-of-samd12-in-a-new-benign-adult-familial-myoclonic-epilepsy-pedigree
#4
Chaorong Liu, Yanmin Song, Ying Yuan, Ying Peng, Nan Pang, Ranhui Duan, Wen Huang, Xuehui Qin, Wenbiao Xiao, Hongyu Long, Sha Huang, Pinting Zhou, Lili Long, Bo Xiao
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investigate whether these abnormal expansions are involved in our new pedigree from China, whole exome sequencing (WES) and repeat-primed polymerase chain reaction (RP-PCR) analysis were performed to detect potential mutation in pedigree members. Neither causal mutations cosegregated with the disease in the family nor any novel mutation was identified through WES, while an abnormal TTTCA expansion in SAMD12 was identified by RP-PCR and then proved to be cosegregated in the pedigree...
2020: Frontiers in Neurology
https://read.qxmd.com/read/31539032/tttca-repeat-insertions-in-an-intron-of-yeats2-in-benign-adult-familial-myoclonic-epilepsy-type-4
#5
Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Epilepsy is a common neurological disorder and identification of its causes is important for a better understanding of its pathogenesis. We previously studied a Thai family with a type of epilepsy, benign adult familial myoclonic epilepsy type 4 (BAFME4), and localized its gene to chromosome 3q26.32-q28. Here, we used single-molecule real-time sequencing and found expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 in one affected member of the family. Of all the available members in the family-comprising 13 affected and eight unaffected-repeat-primed PCR and long-range PCR revealed the co-segregation of the TTTCA repeat insertions with the TTTTA repeat expansions and the disease status...
September 20, 2019: Brain
https://read.qxmd.com/read/30928698/familial-adult-myoclonic-epilepsy-a-new-expansion-repeats-disorder
#6
REVIEW
Ilaria Lagorio, Federico Zara, Salvatore Striano, Pasquale Striano
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. Prevalence is unknown since this condition is often under-recognized, but it is estimated to be less than 1/35,000. The disease usually starts in the second decade of life and has been genetically associated with at least 4 different loci (8q24, 2p11.1-q12...
April 2019: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/30591883/sleep-is-associated-with-reduction-of-epileptiform-discharges-in-benign-adult-familial-myoclonus-epilepsy
#7
Takefumi Hitomi, Morito Inouchi, Hirofumi Takeyama, Katsuya Kobayashi, Shamima Sultana, Takeshi Inoue, Yuko Nakayama, Akihiro Shimotake, Masao Matsuhashi, Riki Matsumoto, Kazuo Chin, Ryosuke Takahashi, Akio Ikeda
To clarify the effects of sleep on cortical irritability in benign adult familial myoclonus epilepsy (BAFME), we retrospectively compared epileptiform discharges of electroencephalographies (EEGs) between awake and sleep periods in 5 patients (mean age: 49.6 ± 20.3 years). We also analyzed polysomnography (PSG) of 1 patient. Epileptiform discharges were significantly more frequent during the awake period (1.3 ± 1.2/min) than those during light sleep stages (0.02 ± 0.04/min) (P < 0.05)...
2019: Epilepsy & Behavior Case Reports
https://read.qxmd.com/read/30559482/detecting-a-long-insertion-variant-in-samd12-by-smrt-sequencing-implications-of-long-read-whole-genome-sequencing-for-repeat-expansion-diseases
#8
Takeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, Noriko Miyake, Naomichi Matsumoto, Satoko Miyatake
Long-read sequencing technology is now capable of reading single-molecule DNA with an average read length of more than 10 kb, fully enabling the coverage of large structural variations (SVs). This advantage may pave the way for the detection of unprecedented SVs as well as repeat expansions. Pathogenic SVs of only known genes used to be selectively analyzed based on prior knowledge of target DNA sequence. The unbiased application of long-read whole-genome sequencing (WGS) for the detection of pathogenic SVs has just begun...
December 17, 2018: Journal of Human Genetics
https://read.qxmd.com/read/30053653/nationwide-survey-in-japan-endorsed-diagnostic-criteria-of-benign-adult-familial-myoclonus-epilepsy
#9
Katsuya Kobayashi, Takefumi Hitomi, Riki Matsumoto, Masako Watanabe, Ryosuke Takahashi, Akio Ikeda
PURPOSE: Benign adult familial myoclonus epilepsy (BAFME) is an autosomal dominant disease representing tremulous myoclonus or cortical tremor and infrequent generalized seizures. We aimed to delineate detailed epidemiological backgrounds in patients with Japanese BAFME and to establish diagnostic criteria based on clinical and electrophysiological findings. METHODS: After a previous survey on the current nationwide state of myoclonus epilepsy of adults in Japan, we conducted this survey to delineate the clinical characteristics of Japanese BAFME patients, using a questionnaire to obtain details for individual patients...
October 2018: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/29507423/expansions-of-intronic-tttca-and-tttta-repeats-in-benign-adult-familial-myoclonic-epilepsy
#10
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
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located...
April 2018: Nature Genetics
https://read.qxmd.com/read/28733629/improving-nitrogen-source-utilization-from-defatted-soybean-meal-for-nisin-production-by-enhancing-proteolytic-function-of-lactococcus-lactis-f44
#11
Jiaheng Liu, Jianjian Zhou, Lihong Wang, Zelin Ma, Guangrong Zhao, Zhiqiang Ge, Hongji Zhu, Jianjun Qiao
Nisin, one kind of natural antimicrobial peptide, is produced by certain Lactococcus lactis strains, which generally require expensive high-quality nitrogen sources due to limited ability of amino acids biosynthesis. Here we use defatted soybean meal (DSM) as sole nitrogen source to support L. lactis growth and nisin production. DSM medium composition and fermentation conditions were optimized using the methods of Plackett-Burman design and central composite design. The highest nisin production of 3879.58 IU/ml was obtained in DSM medium, which was 21...
July 21, 2017: Scientific Reports
https://read.qxmd.com/read/27618961/autosomal-dominant-cortical-tremor-myoclonus-and-epilepsy
#12
REVIEW
Pasquale Striano, Federico Zara
The term 'cortical tremor' was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others)...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/27037791/altered-cerebellar-cerebral-functional-connectivity-in-benign-adult-familial-myoclonic-epilepsy
#13
Lili Long, Ling-Li Zeng, Yanmin Song, Hui Shen, Peng Fang, Linlin Zhang, Lin Xu, Jian Gong, Yun-Ci Zhang, Yong Zhang, Pinting Zhou, Sha Huang, Si Chen, Yuanyuan Xie, Dewen Hu, Bo Xiao
OBJECTIVE: The pathogenesis of benign adult familial myoclonic epilepsy (BAFME) remains unknown, although cerebellar pathologic changes and brain hyperexcitability have been reported. We used resting-state functional magnetic resonance imaging (fMRI) to examine the functional connectivity between the cerebellum and cerebrum in a Chinese family with BAFME for the first time. METHODS: Eleven adults with BAFME and 15 matched healthy controls underwent resting-state blood oxygen level-dependent (BOLD) fMRI scanning...
June 2016: Epilepsia
https://read.qxmd.com/read/26907167/benign-adult-familial-myoclonus-epilepsy-is-a-progressive-disorder-no-longer-idiopathic-generalized-epilepsy
#14
Takefumi Hitomi, Katsuya Kobayashi, Takeyo Sakurai, Sakiho Ueda, Naoto Jingami, Kyoko Kanazawa, Riki Matsumoto, Ryosuke Takahashi, Akio Ikeda
Brain dysfunction in Japanese benign adult familial myoclonus epilepsy (BAFME) has not been elucidated. To clarify diffuse brain dysfunction as indicated by posterior dominant rhythm (PDR) slowing in patients with BAFME. The frequency of PDR on EEG was studied in 19 BAFME patients (50.6±15.7 years) and 38 age-matched control subjects (50.1±14.5 years). We investigated the relationship between age and PDR in both groups. PDR frequency in the patient group (9.1±0.7 Hz) was significantly slower than that of age-matched control subjects (10...
March 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/26496303/gray-matter-loss-and-related-functional-connectivity-alterations-in-a-chinese-family-with-benign-adult-familial-myoclonic-epilepsy
#15
Ling-Li Zeng, Lili Long, Hui Shen, Peng Fang, Yanmin Song, Linlin Zhang, Lin Xu, Jian Gong, Yunci Zhang, Yong Zhang, Bo Xiao, Dewen Hu
Benign adult familial myoclonic epilepsy (BAFME) is a non-progressive monogenic epilepsy syndrome. So far, the structural and functional brain reorganizations in BAFME remain uncharacterized. This study aims to investigate gray matter atrophy and related functional connectivity alterations in patients with BAFME using magnetic resonance imaging (MRI).Eleven BAFME patients from a Chinese pedigree and 15 matched healthy controls were enrolled in the study. Optimized voxel-based morphometric and resting-state functional MRI approaches were performed to measure gray matter atrophy and related functional connectivity, respectively...
October 2015: Medicine (Baltimore)
https://read.qxmd.com/read/25869050/abstracts-bafm-winter-meeting-2006-leicester-uk
#16
(no author information available yet)
No abstract text is available yet for this article.
June 2007: Forensic Science, Medicine, and Pathology
https://read.qxmd.com/read/25750529/a-case-control-proton-magnetic-resonance-spectroscopy-study-confirms-cerebellar-dysfunction-in-benign-adult-familial-myoclonic-epilepsy
#17
Lili Long, Yanmin Song, Linlin Zhang, Chongyu Hu, Jian Gong, Lin Xu, Hongyu Long, Luo Zhou, Yunci Zhang, Yong Zhang, Bo Xiao
BACKGROUND: Benign adult familial myoclonic epilepsy (BAFME) is a rare form of epilepsy syndrome. The pathogenesis of BAFME remains unclear, though it seems to involve dysfunction of the cerebellum. OBJECTIVES: The purpose of this study was to use proton magnetic resonance spectroscopy ((1)H-MRS) to investigate whether neurochemical changes underlie abnormal brain function in BAFME. METHODS: Twelve BAFME patients from one family and 12 age- and sex-matched healthy controls were enrolled in this study...
2015: Neuropsychiatric Disease and Treatment
https://read.qxmd.com/read/25672731/-recent-advance-in-research-of-benign-adult-familial-myoclonus-epilepsy-bafme-is-bafme-a-progressive-disorder
#18
REVIEW
Takefumi Hitomi, Ryosuke Takahashi, Akio Ikeda
Benign adult familial myoclonus epilepsy (BAFME) is an adult onset, autosomal dominant disease characterized by cortical tremor and infrequent generalized seizures. BAFME was considered as non-progressive, but cortical tremor worsened in some of the aged patients. We investigated the disease progression of BAFME. Cortical tremor significantly worsened and amplitudes of giant somatosensory evoked potential significantly increased with age in BAFME. These findings suggest that a progressive increase of cortical hyperexcitability causes exaggeration of cortical tremor...
2014: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/24549855/a-chinese-benign-adult-familial-myoclonic-epilepsy-pedigree-suggesting-linkage-to-chromosome-5p15-31-p15-1
#19
Jia Li, Xinyu Hu, Qiuhui Chen, Yizhi Zhang, Ying Zhang, Guohua Hu
Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q23.3-q24.1, 2p11.1-q12.1, 5p15.31-p15.1, and 3q26.32-3q28, in Japanese, Italian, Thai, and French pedigrees, respectively. Recently, we investigated a Chinese BAFME family. Clinical and electrophysiological studies revealed that nine individuals were affected with BAFME. We aimed to establish the causative gene for this pedigree. We genotyped 17 microsatellite markers covering the four previously identified chromosome regions and performed linkage analyses...
July 2014: Cell Biochemistry and Biophysics
https://read.qxmd.com/read/24184691/increased-clinical-anticipation-with-maternal-transmission-in-benign-adult-familial-myoclonus-epilepsy-in-japan
#20
Takefumi Hitomi, Katsuya Kobayashi, Naoto Jingami, Tomokazu Nakagawa, Hisaji Imamura, Riki Matsumoto, Takayuki Kondo, Kazuo Chin, Ryosuke Takahashi, Akio Ikeda
We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs and 4 father/child pairs)...
December 2013: Epileptic Disorders: International Epilepsy Journal with Videotape
keyword
keyword
204773
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"