Literature DB >> 2112762

[A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy--the nosological place of familial essential myoclonus and epilepsy (FEME)].

G Inazuki1, H Naito, E Ohama, Y Kawase, Y Honma, S Tokiguchi, S Hasegawa, K Tamura, K Kawai, H Nagai.   

Abstract

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Year:  1990        PMID： 2112762

Source DB:  PubMed          Journal:  Seishin Shinkeigaku Zasshi        ISSN： 0033-2658


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  4 in total

1.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Authors:  M Mikami; T Yasuda; A Terao; M Nakamura; S Ueno; H Tanabe; T Tanaka; T Onuma; Y Goto; S Kaneko; A Sano
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

2.  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.

Authors:  Akane Terasaki; Masayuki Nakamura; Yuka Urata; Hanae Hiwatashi; Izumi Yokoyama; Takeshi Yasuda; Teiichi Onuma; Kazumaru Wada; Sunao Kaneko; Rumiko Kan; Shin-Ichi Niwa; Ohiko Hashimoto; Osamu Komure; Yu-Ichi Goto; Yuko Yamagishi; Misa Nakano; Yoshihiko Furusawa; Akira Sano
Journal:  J Hum Genet       Date:  2020-10-10       Impact factor: 3.172

3.  Familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature.

Authors:  Sarvi Sharifi; Eleonora Aronica; Johannes H T M Koelman; Marina A J Tijssen; Anne-Fleur Van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-08-28

Review 4.  Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

Authors:  Tom van den Ende; Sarvi Sharifi; Sandra M A van der Salm; Anne-Fleur van Rootselaar
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-01-23
  4 in total

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