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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10

https://doi.org/10.1016/j.braindev.2019.03.009

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/1531-8249(200010)48:4<647::aid-ana12>3.0.co;2-qopenalex-snapshot

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

inferredcites →https://doi.org/10.1002/mgg3.227openalex-snapshot

Founder mutation inKCNJ10in Pakistani patients with EAST syndrome

inferredcites →https://doi.org/10.1007/s00467-012-2219-4openalex-snapshot

SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule

inferredcites →https://doi.org/10.1007/s13760-012-0113-2openalex-snapshot

KCNJ10 gene mutation in an 8-year-old boy with seizures

inferredcites →https://doi.org/10.1016/j.bbrc.2010.07.105openalex-snapshot

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

inferredcites →https://doi.org/10.1056/nejmoa0810276openalex-snapshot

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

inferredcites →https://doi.org/10.1073/pnas.0901749106openalex-snapshot

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

inferredcites →https://doi.org/10.1073/pnas.1003072107openalex-snapshot

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

inferredcites →https://doi.org/10.1074/jbc.m110.163170openalex-snapshot

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10)

inferredcites →https://doi.org/10.1074/jbc.m113.470948openalex-snapshot

Carbamazepine as a Novel Small Molecule Corrector of Trafficking-impaired ATP-sensitive Potassium Channels Identified in Congenital Hyperinsulinism

inferredcites →https://doi.org/10.1080/21675511.2016.1195043openalex-snapshot

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

inferredcites →https://doi.org/10.1111/cge.13374openalex-snapshot

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

inferredcites →https://doi.org/10.1111/dmcn.12171openalex-snapshot

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

inferredcites →https://doi.org/10.1113/jphysiol.2010.198531openalex-snapshot

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

inferredcites →https://doi.org/10.1136/jnnp.69.5.636openalex-snapshot

Effects of topiramate on cognitive function

inferredcites →https://doi.org/10.1159/000330250openalex-snapshot

KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome

inferredcites →https://doi.org/10.1159/000356353openalex-snapshot

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

inferredcites →https://doi.org/10.1177/2050313x17723549openalex-snapshot

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report

inferredcites →https://doi.org/10.1212/wnl.37.3.379openalex-snapshot

Valproic acid hepatic fatalities

inferredcites →https://doi.org/10.1681/asn.2009121227openalex-snapshot

Molecular Basis of Decreased Kir4.1 Function in SeSAME/EAST Syndrome

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4156340openalex-extracted

Genotype-Phenotype Analysis of Children with Epilepsy Referred for WES at a Tertiary Care University Hospital

inferred← citeshttps://doi.org/10.1002/epi4.12564openalex-snapshot

Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy

inferred← citeshttps://doi.org/10.1002/glia.24375openalex-snapshot

GPR37L1 controls maturation and organization of cortical astrocytes during development

inferred← citeshttps://doi.org/10.1002/jnr.24985openalex-snapshot

Envisioning the role of inwardly rectifying potassium (Kir) channel in epilepsy

inferred← citeshttps://doi.org/10.1007/s10048-020-00605-6openalex-snapshot

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

inferred← citeshttps://doi.org/10.1016/j.gendis.2025.101852openalex-snapshot

Optimizing anti-seizure medication selection for epilepsy in EAST/SeSAME syndrome: Insights from DrugBank and STRING databases

inferred← citeshttps://doi.org/10.1016/j.ncl.2021.05.005openalex-snapshot

Genetics in Epilepsy

inferred← citeshttps://doi.org/10.1055/s-0039-3401028openalex-snapshot

GRIN2A-Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine

inferred← citeshttps://doi.org/10.1093/oxfordhb/9780190669164.013.13openalex-snapshot

Potassium Channel Mutations in Epilepsy

inferred← citeshttps://doi.org/10.1152/physrev.00027.2023openalex-snapshot

Navigating the multifaceted intricacies of the Na + -Cl − cotransporter, a highly regulated key effector in the control of hydromineral homeostasis

inferred← citeshttps://doi.org/10.14814/phy2.70083openalex-snapshot

Characterization of a novel variant in KCNJ16 , encoding K ir 5.1 channel

inferred← citeshttps://doi.org/10.3390/brainsci10020072openalex-snapshot

Downregulation of Astrocytic Kir4.1 Potassium Channels Is Associated with Hippocampal Neuronal Hyperexcitability in Type 2 Diabetic Mice

inferred← citeshttps://doi.org/10.3390/cells15040330openalex-snapshot

Gender-Associated Differences in the Regulation of Potassium Channels in Astrocytes of Type 2 Diabetic Mice

inferred← citeshttps://doi.org/10.3390/children10081334openalex-snapshot

Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

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