Consanguinity was present only in the Asian family. Seizures were a presenting symptom in four of the cases with onset as early as 3–7 months of age. Development delay and learning difficulties were present in all of the cases. [adc.bmj.com]

Presentation early in life due to seizures provides an opportunity to investigate the development of the electrolyte defect with age. [ncbi.nlm.nih.gov]

A possible genetic cause for epilepsy (as the presenting symptom), especially in combination with other symptoms, should always be considered. [longdom.org]

[…] rectifying potassium channel Kir4.1 is critical for glial function, control of neuronal excitability, and systemic K… AIMS We investigated the relationship between autonomic nervous system balance, systemic immune activation, endothelial… This article presents [semanticscholar.org]

• Abnormal Eye Movement

  Ataxia is a broad term that describes poor muscle control, impaired balance and coordination, lack of fine motor control, difficulty eating and swallowing, abnormal gait, and abnormal eye movement. [issuu.com]

• Dysarthria

  […] with 3 affected children, one sibling was able to walk at around 3.5 y of age, another at around 7.5 y and more unsteady, and another unable to walk independently at all4 With regard to language development, apart from the slurred speech and scanning dysarthria [tandfonline.com]

The movement disorders associated with ataxia can be managed by pharmacological treatments and through physical therapy and occupational therapy to reduce disability.[10] Physical therapy treatment is highly dependent on each individual and varies. [en.wikipedia.org]

The treatment is based on antiepileptic drugs, electrolyte replacement, hearing aids and mobility devices. [pubmed.ncbi.nlm.nih.gov]

Our study indicates that the prognosis of patients suffering from EAST/SeSAME syndrome is related to the severity of the mutation causing the disease. [jstage.jst.go.jp]

PROGNOSIS  recurrent infections, is the cause of death in at least 27%.  rare cases have survived up to the age of 18 years. 18. [slideshare.net]

Variants exist with only partial features, and prognosis is mainly linked to the severity of the neurological symptoms. [diapedia.org]

Etiology The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Genetic counseling Transmission is autosomal recessive. [orpha.net]

The authors also present the “triple E syndrome,” describing the possible etiologies of this injury: epilepsy (or any convulsive seizure), electrocution, or extreme trauma. Received December 9, 1999. Accepted January 30, 2001. [neurology.org]

An association with abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and manifestation of the disease from early childhood suggests a congenital or hereditary etiology. [ijcpjournal.org]

2015 News Epidemiological update: Middle East respiratory syndrome coronavirus (MERS-CoV), 21 July 2015 epidemiological update - 21 Jul 2015 News Epidemiological update: Middle East respiratory syndrome coronavirus (MERS-CoV) epidemiological update - [ecdc.europa.eu]

In the meantime, further affected families (Celmina M et al. 2019) and new mutations have been reported (Nadella RK et al. 2019) Occurrence/Epidemiology This section has been translated automatically. [altmeyers.org]

7 de cada 10 casos de infección humana por MERS CoV son del sexo masculino (n=1.165) y con edad promedio de 49 años (rango 9 meses a 99 años). es_ES dc.language.iso en en_US dc.language.iso es en_US dc.publisher PAHO en_US dc.relation.ispartofseries Epidemiological [iris.paho.org]

Summary Epidemiology It has been described in five patients from four families. [orpha.net]

This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule. [ncbi.nlm.nih.gov]

Knowledge of the pathophysiology of these diseases and their multifaceted clinical spectrum is an important prerequisite for making the correct diagnosis and forms the basis for personalized therapies. [discovery.ucl.ac.uk]

Investigation of EAST syndrome reveals the role of KCNJ10 in human physiology and pathophysiology. Where applicable, experiments conform with Society ethical requirements [physoc.org]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.com]

[…] first published online 7 February 2011) Related content Articles related to the one you are viewing Citing Literature Number of times cited : 17 1 Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer, EAST syndrome: Clinical, pathophysiological [onlinelibrary.wiley.com]

Prevention : There is no vaccine for MERS so prevention is critical. [phc.amedd.army.mil]

Centers for Disease Control and Prevention, Atlanta, Georgia, U.S.A.. [microbes.info]

More Control and Prevention Provides interim guidance developed by OSHA to help prevent worker exposure to MERS-CoV and persons with the disease. More Additional Resources Provides links and references to additional resources related to MERS-CoV. [osha.gov]

Common sources of liquids high in sugars are: A bottle containing formula, milk, soda, or juice A pacifier dipped in honey Breast milk You can help prevent Baby Bottle Syndrome by: Cleaning your child’s teeth daily Not allowing your child to fall asleep [littleteeth.com]