RT Journal Article
T1 Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study
A1 Amanat, Sana
A1 Gallego-Martinez, Alvaro
A1 Sollini, Joseph
A1 Perez-Carpena, Patricia
A1 Espinosa-Sanchez, Juan M.
A1 Aran, Ismael
A1 Soto-Varela, Andres
A1 Batuecas-Caletrio, Angel
A1 Canlon, Barbara
A1 May, Patrick
A1 Cederroth, Christopher R.
A1 Lopez-Escamez, Jose A.
K1 Tinnitus
K1 Extreme phenotype
K1 Axon initial segment
K1 Exome sequencing
K1 Meniere disease
K1 Epilepsy
K1 Genetic studies
K1 Acúfeno
K1 Fenotipo
K1 Segmento inicial del axón
K1 Secuenciación del exoma completo
K1 Enfermedad de Meniere
K1 Epilepsia
K1 Estudios de asociación genética
AB tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype. The aim of this study was to identify genes for severe tinnitus in patients with extreme phenotype.
PB Elsevier B.V.
YR 2021
FD 2021-04-01
LK http://hdl.handle.net/10668/4136
UL http://hdl.handle.net/10668/4136
LA en
NO Amanat S, Gallego-Martinez A, Sollini J, Perez-Carpena P, Espinosa-Sanchez JM, Aran I, et al. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine. 2021 Apr;66:103309. doi: 10.1016/j.ebiom.2021.103309.
DS RISalud
RD Apr 25, 2025