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

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

(2019) Ali Mir et al.   BRAIN & DEVELOPMENT

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function

(2019) Hongfeng Zhang et al.   Frontiers in Genetics

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

(2018) Francesco Nicita et al.   CEREBELLUM

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

(2018) M. Celmina et al.   CLINICAL GENETICS

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

(2018) Mariasavina Severino et al.   JOURNAL OF NEUROLOGY

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities

(2017) Muna A. Al Dhaibani et al.   JOURNAL OF NEUROGENETICS

Structural basis of control of inward rectifier Kir2 channel gating by bulk anionic phospholipids

(2016) Sun-Joo Lee et al.   JOURNAL OF GENERAL PHYSIOLOGY

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

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

(2013) J Helen Cross et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

(2013) Sophie Parrock et al.   NEPHRON PHYSIOLOGY

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

(2012) Bülent Kara et al.   ACTA NEUROLOGICA BELGICA

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

(2012) Ute I. Scholl et al.   PEDIATRIC NEPHROLOGY

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

(2011) Dorothy A. Thompson et al.   JOURNAL OF PHYSIOLOGY-LONDON

KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome

(2011) Bernard Freudenthal et al.   NEPHRON PHYSIOLOGY

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

(2010) M. Reichold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA