Literature DB >> 15508931

Familial adult myoclonic epilepsy (FAME).

Eiichiro Uyama1, Ying-Hui Fu, Louis J Ptácek.   

Abstract

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Mesh：

Year:  2005        PMID： 15508931

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  5 in total

1.  UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.

Authors:  Takeo Kato; Gen Tamiya; Shingo Koyama; Tomohiro Nakamura; Satoshi Makino; Shigeki Arawaka; Toru Kawanami; Ikuo Tooyama
Journal:  ISRN Neurol       Date:  2012-09-17

2.  Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.

Authors:  Radha Mahadevan; Rahul C Bhoyar; Natarajan Viswanathan; Raskin Erusan Rajagopal; Bobby Essaki; Varun Suroliya; Rachel Chelladurai; Saravanan Sankaralingam; Ganesan Shanmugam; Sriramakrishnan Vayanakkan; Uzma Shamim; Aradhana Mathur; Abhinav Jain; Mohamed Imran; Mohammed Faruq; Vinod Scaria; Sridhar Sivasubbu; Shantaraman Kalyanaraman
Journal:  Brain Commun       Date:  2020-12-19

3.  Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: pathophysiology and diagnostic implications.

Authors:  Raffaele Dubbioso; Pasquale Striano; Leo Tomasevic; Leonilda Bilo; Marcello Esposito; Fiore Manganelli; Antonietta Coppola
Journal:  Brain Commun       Date:  2022-02-15

Review 4.  Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.

Authors:  Luca Marsili; Kevin R Duque; Rachel L Bode; Marcelo A Kauffman; Alberto J Espay
Journal:  Front Neurol       Date:  2022-03-23       Impact factor: 4.003

5.  Familial cortical myoclonus with a mutation in NOL3.

Authors:  Jonathan F Russell; Jamie L Steckley; Giovanni Coppola; Angelika F G Hahn; MacKenzie A Howard; Zachary Kornberg; Alden Huang; Seyed M Mirsattari; Barry Merriman; Eric Klein; Murim Choi; Hsien-Yang Lee; Andrew Kirk; Carol Nelson-Williams; Gillian Gibson; Scott C Baraban; Richard P Lifton; Daniel H Geschwind; Ying-Hui Fu; Louis J Ptáček
Journal:  Ann Neurol       Date:  2012-08       Impact factor: 10.422
  5 in total

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