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DeCS
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Descriptor English:
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Jervell-Lange Nielsen Syndrome
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Descriptor Spanish:
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Síndrome de Jervell-Lange Nielsen
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Descriptor Portuguese:
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Síndrome de Jervell-Lange Nielsen
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Tree Number:
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C14.280.067.565.440
C16.131.240.400.715.440
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Definition English:
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A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
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See Related English:
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KCNQ1 Potassium Channel
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History Note English:
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2002; use LONG QT SYNDROME 1986-2001
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Allowable Qualifiers English:
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Record Number:
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36017
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Unique Identifier:
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D029593
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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