Einwärts gerichteter Kalium-Kanal, Subfamilie J, Typ 10
Das KCNJ10-Gen kodiert einen einwärts gerichteten Kaliumkanal, dessen Vorkommen in der Niere und im zentralen Nervensystem für die Ausbildung der komplexen Symptomatik des EAST-Syndroms verantwortlich ist. Das EAST-Syndrom ist eine autosomal rezessive Erkrankung.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Neusch C et al. (2001) Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.
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2. |
Rozengurt N et al. (2003) Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.
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3. |
Scholl UI et al. (2009) Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
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4. |
Bockenhauer D et al. (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
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5. |
Djukic B et al. (2007) Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation.
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6. |
Doupnik CA et al. (1995) The inward rectifier potassium channel family.
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7. |
Takumi T et al. (1995) A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells.
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8. |
Tada Y et al. (1997) Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1.
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9. |
NCBI article
NCBI 3766
|
10. |
OMIM.ORG article
Omim 602208
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11. |
Orphanet article
Orphanet ID 189344
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Update: 14. August 2020