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The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

European Journal of Human Genetics : EJHG

Dec 15, 2016

Mario Van PouckeLuc Van Ham

Abstract

SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar...read more

Mentioned in this Paper

Study
KCNJ10 protein, human
Dog Diseases
Electrolytes
Equipment Safety
Ataxia as Late Effect of Cerebrovascular Disease
Multisystem Disorder
Pathogenic Organism
Genetic Analysis
Genetic Screening Method
1
1
19
Paper Details
References
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  • References43
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Related Papers

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule(opens in new tab)

Pediatric Nephrology : Journal of the International Pediatric Nephrology AssociationAugust 22, 2012
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The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

European Journal of Human Genetics : EJHG

Dec 15, 2016

Mario Van PouckeLuc Van Ham

PMID: 27966545

DOI: 10.1038/ejhg.2016.157

Abstract

SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound heterozygous variations in the KCNJ10 gene. Here we describe a similar...read more

Mentioned in this Paper

Study
KCNJ10 protein, human
Dog Diseases
Electrolytes
Equipment Safety
Ataxia as Late Effect of Cerebrovascular Disease
Multisystem Disorder
Pathogenic Organism
Genetic Analysis
Genetic Screening Method
1
1
19

Feeds With Similar Papers

Multiple Systems Atrophy (MDS)

Multiple Systems Atrophy is a rare neurodegenerative disorder characterized by parkinsonism and ataxia. Mutations in the alpha-synuclein protein may be involved in affected degenerating neurons. Discover the latest research on multiple systems atrophy here.

Striatonigral Degeneration (MDS)

Striatonigral degeneration is a neurological disorder resulting from a disrupted connection between the striatum and substantia nigra, which enable balance and movement. Here is the latest research.

Related Papers

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule(opens in new tab)

Pediatric Nephrology : Journal of the International Pediatric Nephrology AssociationAugust 22, 2012
Ute I SchollRichard P Lifton
Paper Details
References
  • References43
  • Citations1
12345
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1

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