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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cochlear implantation in Jervell and Lange-Nielsen syndrome.

A case of familial prolonged QT interval and congenital sensorineural hearing loss is described emphasising the diagnostic and management implications. Jervell and Lange-Nielsen syndrome is important because of its potential association with sudden death in children with congenital sensorineural deafness. It is known to be associated with mutations of the genes KCNQ1 (KVQTI) and KCNE1 (Isk). The underlying molecular abnormality leads to cardiac and cochlear dysfunction through a potassium channel defect. All children with congenital sensorineural hearing loss who have suffered unexplained syncopal attacks or convulsions should be screened for this syndrome. There is also a strong case for including a 12 lead ECG as part of the investigative work up of all children with congenital sensorineural deafness in whom a firm aetiology has not been established.[1]


  1. Cochlear implantation in Jervell and Lange-Nielsen syndrome. Chorbachi, R., Graham, J.M., Ford, J., Raine, C.H. Int. J. Pediatr. Otorhinolaryngol. (2002) [Pubmed]
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