A case of Landau-Kleffner syndrome with SLC26A4-related hearing impairment

P Gong, X Jiao, Z Yang - Acta Epileptologica, 2022 - Springer
Abstract Background Landau-Kleffner syndrome (LKS) is an acquired aphasia and
electroencephalogram (EEG) abnormalities mainly in temporoparietal areas. SLC26A4 …

The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients

Q Wang, J Hu, P Bian, C Chen, Y Wang… - Acta Oto …, 2023 - Taylor & Francis
Background SLC26A4 gene mutations related to hearing loss patients can obtain good
hearing and speech rehabilitation effects after cochlear implantation (CI). Objective To …

Gene Therapy for Inherited Hearing Loss: Updates and Chal-lenges

R Hahn, KB Avraham - 2023 - preprints.org
Hearing loss stands as the most prevalent sensory deficit among humans, posing a
significant global health challenge. Projections indicate that by 2050, approximately 10% of …

Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of SLC26A4 c. 919–2A> G Variant

CC Wu, YH Chan, CH Ho, CY Tsai, CC Chang, CJ Hu… - 2024 - researchsquare.com
Recessive variants of SLC26A4 are a common cause of hereditary hearing impairment and
are responsible for non-syndromic enlarged vestibular aqueducts and Pendred syndrome …

In Utero Gene Therapy and its Application in Genetic Hearing Loss

C Kong, G Yin, X Wang, Y Sun - Advanced Biology - Wiley Online Library
For monogenic genetic diseases, in utero gene therapy (IUGT) shows the potential for early
prevention against irreversible and lethal pathological changes. Moreover, animal models …

Association Between Susceptibility to SSHL and Single Nucleotide Polymorphisms at the rs2228612 Locus of the DNMT1 Gene and the rs5570459 Locus of the GJB2 …

Y Zhang, H Liu, Y Song, N Liu… - Alternative Therapies in …, 2023 - search.ebscohost.com
Abstract Context• Sudden deafness (SSHL) belongs to the category of diseases causing
neurological hearing loss with a sudden and unknown etiology. The pathogenesis and …

Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence

F Simon, F Denoyelle… - Journal of Vestibular …, 2021 - content.iospress.com
BACKGROUND: Menière disease (MD) and SLC26A4 related deafness (Pendred syndrome
(PS) or DFNB4) are two different inner ear disorders which present with fluctuating and …

A novel genotyping technique for discriminating LVAS-associated high-frequency variants in SLC26A4 gene

C Zhou, X Zou, C Peng, G Gao, Z Guo - AMB Express, 2020 - Springer
An increasing number of biological and epidemiological evidence suggests that c. 919-2A>
G and c. 2168A> G variants of solute carrier family 26, member 4 (SLC26A4) gene play a …

[HTML][HTML] Inner Ear Gene Therapy in Mouse Models of Genetic Hearing Loss

JW Choi - Korean Journal of Otorhinolaryngology-Head and …, 2021 - synapse.koreamed.org
Hearing loss is the most frequent sensory disorder affecting newborns and children. About 1
newborn in every 500 suffer from congenital hearing loss, with approximately half of these …

유전성난청마우스모델에서의내이유전자치료

최진웅 - 대한이비인후과학회지두경부외과학, 2021 - dbpia.co.kr
Hearing loss is the most frequent sensory disorder affecting newborns and children. About
1newborn in every 500 suffer from congenital hearing loss, with approximately half of …