SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)

Question 1

What is  SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)?

Accepted Answer

rare
autosomal recessive
mutation in the KCNJ10 gene (14 different mutations until 2016)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

EAST-Syndrom; SeSAME-Syndrom; Krämpfe - sensorineurale Schwerhörigkeit - Ataxie - intelligenzminderung - Elektrolytimb

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612780

Question 4

Which enzymes are involved?

Accepted Answer

ATP-sensitive inward rectifier potassium channel 10

Disease	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)
Synonym	SESAME SYNDROME; EAST SYNDROME
OMIM	612780 OMIM = Online Mendelian Inheritance of Men
Orphanet	199343
Protein (UniProt)	ATP-sensitive inward rectifier potassium channel 10
Gene locus	1q23.2
ICD
Summary	rare autosomal recessive mutation in the KCNJ10 gene (14 different mutations until 2016)
Laboratory findings	Magnesium dec (plasma) Magnesium inc (urine) Potassium dec (plasma) Potassium inc (urine) Renin activity (PRA) or renin inc (plasma) Sodium inc (urine)
Symptoms	ataxia cerebellar atrophy or hypoplasia defect of walking, running, rising or climbing developmental delay enuresis nocturna epilepsy feeding difficulties, poor feeding hearing defect, deafness hypotonia intellectual disability/intellectual developmental disorder irritability mental retardation metabolic alkalosis myelination, incomplete, hypomyelination onset, infancy polydipsia (increased drinking) polyuria psychomotor retardation seizures short stature speech development, delayed, abnormal tremor or twitching tubulopathy