SeSAME/EAST syndromephenotypic variability and delayed activity of the distal convoluted tubule

Pediatric Nephrology

Volumn 27, Issue 11, 2012, Pages 2081-2090

  Scholl, Ute I ^a   Dave, Haatal B ^b   Lu, Ming ^a   Farhi, Anita ^a   Nelson Williams, Carol ^a   Listman, James A ^b   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b State University of New York Upstate Medical University: College of Medicine   (United States)

Author keywords

Ataxia; Deafness; Gitelman syndrome; KCNJ10; Kir4.1; Seizures

Indexed keywords

ALDOSTERONE; BICARBONATE; CALCIUM; CARBAMAZEPINE; CREATININE; DOCUSATE SODIUM; ELECTROLYTE; MACROGOL; MAGNESIUM; OXCARBAZEPINE; PHENOBARBITAL; POTASSIUM; POTASSIUM CHANNEL; POTASSIUM CHLORIDE; SODIUM; SPIRONOLACTONE; VALPROATE SEMISODIUM; BIOLOGICAL MARKER; INWARDLY RECTIFYING POTASSIUM CHANNEL; POTASSIUM INWARDLY RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 10; POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 10;

ALDOSTERONE BLOOD LEVEL; ALKALOSIS; ARTICLE; ATAXIA; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BRAIN STEM RESPONSE; CALCIUM URINE LEVEL; CASE REPORT; CHILD; CONFOCAL MICROSCOPY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ELECTROENCEPHALOGRAM; ELECTROLYTE DISTURBANCE; ELECTROPHYSIOLOGY; FEMALE; FEVER; GITELMAN SYNDROME; HEARING IMPAIRMENT; HEMIPARESIS; HUMAN; HUMAN CELL; HYPOCALCIURIA; HYPOCHLOREMIA; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY DISTAL TUBULE; LANGUAGE DEVELOPMENT; LOSS OF FUNCTION MUTATION; MALE; MEDICAL RECORD; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PERCEPTION DEAFNESS; PHENOTYPE; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY ARREST; SCHOOL CHILD; SEIZURE; SESAME SYNDROME; SODIUM BLOOD LEVEL; ABSORPTION; AGE; BLOOD; CELL STRAIN HEK293; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HOMOZYGOTE; INFANT; INTELLECTUAL IMPAIRMENT; MEMBRANE POTENTIAL; METABOLISM; PEDIGREE; PREDICTIVE VALUE;

ABSORPTION; AGE FACTORS; BIOLOGICAL MARKERS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROLYTES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HEK293 CELLS; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KIDNEY TUBULES, DISTAL; MALE; MEMBRANE POTENTIALS; MICROSCOPY, CONFOCAL; MUTATION; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PREDICTIVE VALUE OF TESTS; SEIZURES; TRANSFECTION;

EID: 84868131967     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2219-4     Document Type: Article

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