(Q40138002)

17 September 2017

title

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation (English)

1 reference

17 September 2017

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3

Alexandra Durr

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17 September 2017

5

Damien Sanlaville

1 reference

17 September 2017

Rodolphe Dard

1

1 reference

17 September 2017

Cyril Mignot

2

1 reference

17 September 2017

Gaetan Lesca

4

1 reference

17 September 2017

Emmanuel Roze

6

1 reference

17 September 2017

Fanny Mochel

7

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17 September 2017

publication date

23 September 2015

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Developmental Medicine and Child Neurology

17 September 2017

published in

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17 September 2017

volume

57

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17 September 2017

issue

12

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17 September 2017

page(s)

1183-1186

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A structural overview of the plasma membrane Na+,K+-ATPase and H+-ATPase ion pumps.

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Distinct neurological disorders with ATP1A3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Genotype-phenotype correlations in alternating hemiplegia of childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12927

21 January 2018

Identifiers

DOI

10.1111/DMCN.12927

1 reference

17 September 2017

1 reference