Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (Q90999050)

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18 April 2020

title

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (English)

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18 April 2020

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Liana Veneziano

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18 April 2020

Mark F Bennett

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Amy L Schneider

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Antonio Suppa

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publication date

29 October 2019

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18 April 2020

published in

Nature Communications

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volume

10

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issue

1

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18 April 2020

page(s)

4920

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Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus

18 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Detection of long repeat expansions from PCR-free whole-genome sequence data

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Genetic effects on gene expression across human tissues

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

The Lipid Transfer Protein StarD7: Structure, Function, and Regulation

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

LUMPY: a probabilistic framework for structural variant discovery.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Accurate detection of complex structural variations using single-molecule sequencing

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41467-019-12671-Y

7 January 2021

10.1038/S41467-019-12671-Y

Identifiers

DOI

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18 April 2020

0 references

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18 April 2020

PubMed publication ID

31664034

1 reference