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Nephrology / Rare diseases / Kidney diseases / Electrolyte disturbances / Potassium / Gitelman syndrome / Sodium-chloride symporter / Hypokalemia / Bartter syndrome / Medicine / Health / Biology


Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 Ute I. Scholla, Murim Choia, Tiewen Liua, Vincent T. Ramaekersb, Martin G. Ha¨usler
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Document Date: 2012-02-02 09:08:20

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City

Austin / Toronto / Hospital Gasthuisberg / Aachen / London / New Haven / /

Company

Kindred / GenBank / /

Country

Afghanistan / Canada / United Kingdom / Germany / Belgium / Turkey / /

Currency

pence / /

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Event

FDA Phase / Product Issues / /

Facility

C terminus / University of Western Ontario / University Hospital Gasthuisberg / W.M. Keck Facility / Birmingham Children’s Hospital / The Howard Hughes Medical Institute / The Hospital / University Hospital / University Avenue / Yale University / /

IndustryTerm

energy demand / Sample processing / gene products / heterologous systems / study protocol / identical gene products / satellite cells / gene product / /

MedicalCondition

polyuria / metabolic alkalosis / acidosis / Seizures / similar syndrome / idiopathic epilepsy / pseudohypoaldosteronism / Intention tremor / idiopathic epilepsies / related syndrome / benign familial neonatal-infantile seizures / early onset seizures / disorder / Bartter syndrome / Generalized seizures / Mendelian seizure disorders / alkalosis / reduced seizure / previously unrecognized syndrome / diarrheal illness / mental retardation / hyperkalaemic acidosis / several idiopathic epilepsy / cognitive impairment / previously unrecognized human syndrome / seizure / vomiting / kidney failure / Phenotype resembling Gitelman’s syndrome / diseases / Gitelman syndrome / epilepsy / hypotonia / related disorder / contractures / renal tubular acidosis / hypokalemia / spontaneous abortion / marked and persistent hypokalemic metabolic alkalosis / benign familial neonatal/infantile seizures / affected patients Patient number Clinical feature Ancestry Consanguinity Seizures / relatively few single-gene disorders / hypokalaemic alkalosis / unique autosomal / recessive syndrome / Ataxia Developmental delay Hearing loss K / systemic acidosis / IBD / persistent hypokalemia / ataxia / mental retardation / renal diseases / KCNJ10 deficiency / enuresis / progressive hearing loss / moderate-to-severe sensorineural hearing loss / Andersen’s syndrome / observed seizure / sensorineural hearing loss / unique human syndrome / benign familial neonatal seizures / Liddle syndrome / deafness / hypokalemia and metabolic alkalosis / significant hypokalemia / KCNJ10 deficiency display hypokalemia / hypokalemic alkalosis / SeSAME syndrome / hearing loss / hearing impairment / ataxia / intercurrent infection / hyperkalemia / sensorineural deafness / hypertension / disease / neonatal human epilepsy / intercurrent infections / Bartter’s syndrome / New Clinical Syndrome / previously unrecognized clinical syndrome / human disease / syndrome / previously unrecognized complex syndrome featuring seizures / /

MusicGroup

A.F. / /

NaturalFeature

Kir channel / /

OperatingSystem

XP / /

Organization

Hospital for Sick Children / Institutional Review Board / Department of Genetics / Sunnybrook Health Sciences Centre / Yale Human Investigation Committee / Birmingham Children’s Hospital / Centre Hospitalier Universitaire / Lifton / University Hospital / Yale University School of Medicine / Department of Neurology / Yale University / Yale O’Brien Center / University of Western Ontario / Howard Hughes Medical Institute / Department of Paediatrics / /

Person

Anita Farhia / Sally-Anne Hulton / Carol Nelson-Williamsa / Sheldon W. Tobee / Gerhard Giebisch / Richard P. Liftona / Joanne Grimmerd / Martin G. Ha¨uslerc / Willem Proesmans / Vincent T. Ramaekersb / Richard P. Lifton / Stephen Waxman / /

Position

Author / membrane-delimited second messenger / /

Product

mice / KCNJ10 / KCNJ10deficient / /

ProvinceOrState

Connecticut / Ontario / /

Region

Western Ontario / /

Technology

Neuroscience / Genotyping / ClustalW algorithm / genotype / gel electrophoresis / alpha / study protocol / ultrasound / cloning / MRI / DNA sequencing / SNP / aligned using the ClustalW algorithm / /

URL

www.pnas.org兾cgi兾doi兾10.1073兾pnas.0901749106 / /

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