(Q50262946)

28 February 2018

title

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. (English)

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28 February 2018

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Satsuki Mori

1

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28 February 2018

Masayuki Nakamura

2

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28 February 2018

Takeshi Yasuda

3

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28 February 2018

Shu-Ichi Ueno

4

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28 February 2018

Sunao Kaneko

5

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28 February 2018

Akira Sano

6

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28 February 2018

publication date

18 August 2011

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28 February 2018

Journal of Human Genetics

published in

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28 February 2018

volume

56

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28 February 2018

issue

10

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28 February 2018

page(s)

742-747

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28 February 2018

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

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

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Familial cortical tremor with epilepsy: an under-recognized familial tremor.

21 January 2018

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Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

A Dutch family with 'familial cortical tremor with epilepsy'. Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity?

21 January 2018

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The Eukaryotic Genome as an RNA Machine

21 January 2018

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Epileptogenic channelopathies: experimental models of human pathologies.

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The state of the art in the genetic analysis of the epilepsies

21 January 2018

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Mechanisms of human inherited epilepsies

21 January 2018

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

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Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.93

Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.93

Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.93

inferred from DOI database lookup

7 January 2021

based on heuristic

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.93

inferred from DOI database lookup

7 January 2021

based on heuristic

Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.93

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2011.93

1 reference

28 February 2018

1 reference

28 February 2018