Article

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

2018-12-31

Abstract excerpt

Dysfunction in inwardly-rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disability and comorbid phenotypes in SeSAME syndrome can be mechanistically linked solely to Kir4.1 dysfunction. We therefore performed whole exome sequencing and identified additional genetic risk-elements that...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9f936c26-5ec5-52f9-8557-d56081f393d9
DOI: 10.1101/506949

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalanceDOI 10.1101/506949Read

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.Semantic proximity Read

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.Semantic proximity Read

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.Semantic proximity Read

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

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.Semantic proximity Read

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.Semantic proximity Read

Risk Stratification of Arrhythmogenic Consequences of Andersen-Tawil Syndrome Affecting Kir2.1-PIP2 InteractionsSemantic proximity Read

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.Semantic proximity Read

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.Semantic proximity Read

Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous FamilySemantic proximity Read

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).Semantic proximity Read

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Semantic proximity Read

Identification and functional characterization of two novel mutations in <i>KCNJ10</i> and <i>PI4KB</i> in SeSAME syndrome without electrolyte imbalance

Abstract excerpt

Topics

Identifiers and source

Related research