Article
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
European journal of human genetics : EJHG - 1 May 2015
Oh Se-Kyung, Baek Jeong-In, Weigand Karl M, Venselaar Hanka, Swarts Herman G P, Park Seong-Hyun, Hashim Raza Muhammad, Jung Da Jung, Choi Soo-Young, Lee Sang-Heun, Friedrich Thomas, Vriend Gert, Koenderink Jan B, Kim Un-Kyung, Lee Kyu-Yup
Abstract excerpt
Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with migraine found to be associated with a variant in the ATP1A2 gene. The ATP1A2 gene has been reported as the major...
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