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Article

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Clinical genetics - 1 Jan 2019

Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J

Abstract excerpt

EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29722015
DOI: 10.1111/cge.13374

Genes

KCNJ10

Provenance

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KCNJ10 mutations disrupt function in patients with EAST syndrome.Semantic proximity Read ↗

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

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