Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. (Q30616239)

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7 March 2020

title

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome (English)

1 reference

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7 March 2020

1 reference

18

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7 March 2020

Nicholas Lench

9

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7 March 2020

17

Robert Kleta

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19

Detlef Bockenhauer

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7 March 2020

author name string

J Helen Cross

1

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7 March 2020

Ruchi Arora

2

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7 March 2020

Rolf A Heckemann

3

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7 March 2020

Roxana Gunny

4

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7 March 2020

Kling Chong

5

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7 March 2020

Lucinda Carr

6

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7 March 2020

Torsten Baldeweg

7

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7 March 2020

Ann-Marie Differ

8

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7 March 2020

Sophie Varadkar

10

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7 March 2020

Tony Sirimanna

11

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7 March 2020

Evangeline Wassmer

12

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7 March 2020

Sally A Hulton

13

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7 March 2020

Milos Ognjanovic

14

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7 March 2020

Venkateswaran Ramesh

15

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7 March 2020

Sally Feather

16

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7 March 2020

publication date

1 September 2013

1 reference

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Developmental Medicine and Child Neurology

7 March 2020

published in

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7 March 2020

volume

55

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7 March 2020

page(s)

846-856

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7 March 2020

issue

9

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Automatic morphometry in Alzheimer's disease and mild cognitive impairment

7 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

20 June 2018

1 reference

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Functional implications for Kir4.1 channels in glial biology: from K+ buffering to cell differentiation

20 June 2018

1 reference

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Ion channel diseases in children: manifestations and management

20 June 2018

1 reference

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What's new in: "genetics in childhood epilepsy".

20 June 2018

1 reference

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Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

20 June 2018

1 reference

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Idiopathic epilepsy of childhood and potassium ion channels.

20 June 2018

1 reference

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Genetic polymorphisms and idiopathic generalized epilepsies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Lack of the Kir4.1 channel subunit abolishes K+ buffering properties of astrocytes in the ventral respiratory group: impact on extracellular K+ regulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Three-dimensional maximum probability atlas of the human brain, with particular reference to the temporal lobe.

20 June 2018

1 reference

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K+ cycling and the endocochlear potential

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

20 June 2018

Ion channels in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Neurological potassium channelopathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

A potassium channel mutation in neonatal human epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Update on the mechanism of action of antiepileptic drugs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298033

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FDMCN.12171

Improving intersubject image registration using tissue-class information benefits robustness and accuracy of multi-atlas based anatomical segmentation.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FDMCN.12171

Automatic segmentation of brain MRIs of 2-year-olds into 83 regions of interest.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FDMCN.12171

Do generalized tonic-clonic seizures in infancy exist?

21 January 2018

1 reference

12 December 2020

Epilepsy syndromes undetermined whether focal or generalized in infants

1 reference

12 December 2020

Neurological Channelopathies

1 reference

12 December 2020

KCNJ10 mutations disrupt function in patients with EAST syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1111/DMCN.12171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23924083%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23924083%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

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