Your Article Summary
See Latest ArticlesEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
New England Journal of Medicine, 05/08/09
Detlef B et al. – Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. Findings show that the KCNJ10 gene, which encodes a potassium channel expressed in the brain, inner ear, and kidney, plays a major role in renal salt handling and thus possibly in blood-pressure maintenance and its regulation as well.
Methods- Study of the genetic basis of EAST syndrome (an autosomal recessive disease): presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy
- Subjects: 5 children from 2 consanguineous families with epilepsy in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis
- Whole-genome linkage analysis in 4 affected children in 1 family
- Evaluation of newly identified mutations in a potassium-channel gene by use of a heterologous expression system
- Assessment of protein expression and function in genetically modified mice
- Sequencing of the candidate gene
- Linkage analysis identified a single significant locus on chromosome 1q23.2 with lod score of 4.98
- This region contained the KCNJ10 gene
- Gene sequencing showed homozygous missense mutations in affected persons in both families
- These mutations, when expressed heterologously in xenopus oocytes, caused significant and specific decreases in potassium currents
- Mice with Kcnj10 deletions became dehydrated, with definitive evidence of renal salt wasting
Related Articles
Current and future treatment of epilepsy
The Internet Journal of Neurology, 11/03/09
Relevance Score: 91%
“It shouldn’t be something that's evil, it should be talked about”: A phenomenological approach to epilepsy and stigma
Seizure - European Journal of Epilepsy, 10/15/09
Relevance Score: 89%
Interictal EEG spikes identify the region of electrographic seizure onset in some, but not all, pediatric epilepsy patients
Epilepsia, 10/01/09
Relevance Score: 89%
Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: Implications for surgical therapy
Epilepsia, 10/01/09
Relevance Score: 89%
Pathologic cardiac repolarization in pharmacoresistant epilepsy and its potential role in sudden unexpected death in epilepsy: A case–control study
Epilepsia, 10/21/09
Relevance Score: 88%
Today in Basic Science/Genetics...keeping you current
Receive free subspecialty "5-minute updates" via email
Genomic Landscape of Meningiomas
Brain Pathology, 12/15/09
Polyneuropathy associated with IgM vs IgG monoclonal gammopathy: comparison between clinical and electrophysiological findings
Acta Neurologica Scandinavica, 12/15/09
Tetravalent A?1?15 vaccine reduces TCR-positive cell infiltration and up-regulates p75 in Tg2576 brains compared to A?42 vaccine
Journal of Neuroimmunology, 12/15/09
Today in Movement Disorders...keeping you current
Receive free subspecialty "5-minute updates" via email
Urate as a Predictor of the Rate of Clinical Decline in Parkinson Disease [Original Contribution]
Archives of Neurology, 12/15/09
Treatment of Parkinson’s disease by cortical stimulation
Expert Review of Neurotherapeutics, 12/15/09
Current strategies in the treatment of Parkinson’s disease and a personalized approach to management
Expert Review of Neurotherapeutics, 12/15/09
Today in Neurosensory Disorders...keeping you current
Receive free subspecialty "5-minute updates" via email
Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas
Neurosurgical Focus, 12/15/09
Olfactory dysfunction as a diagnostic marker for Parkinson’s disease
Expert Review of Neurotherapeutics, 12/15/09
Pain, referred sensations, and involuntary muscle movements in brachial plexus injury
Acta Neurologica Scandinavica, 12/03/09
Today in Seizure...keeping you current
Receive free subspecialty "5-minute updates" via email
Functional and Cognitive Outcome in Prolonged Refractory Status Epilepticus [Original Contribution]
Archives of Neurology, 12/15/09
Prediction of seizure control in non-ketotic hyperglycemic induced seizures
BMC Neurology, 12/15/09
Misdiagnosis of epileptic and non-epileptic seizures in a neurological intensive care unit
Acta Neurologica Scandinavica, 12/15/09