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Article

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.

Journal of the Association for Research in Otolaryngology : JARO - 1 Dec 2009

Santarelli Rosamaria, Del Castillo Ignacio, Rodríguez-Ballesteros Montserrat, Scimemi Pietro, Cama Elona, Arslan Edoardo, Starr Arnold

Abstract excerpt

Otoferlin is involved in neurotransmitter release at the synapse between inner hair cells (IHCs) and auditory nerve fibres, and mutations in the OTOF gene result in severe to profound hearing loss. Abnormal sound-evoked cochlear potentials were recorded with transtympanic electrocochleography fro...

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Share to Acoustic Stimulation
Share to Audiometry, Pure-Tone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Evoked Potentials, Auditory, Brain Stem

Share to Hair Cells, Auditory, Inner

Share to Mechanotransduction, Cellular

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Source

Open in PubMed Open full text

Identifiers

PMID: 19636622
DOI: 10.1007/s10162-009-0181-z
PMCID: PMC2774414

Genes

OTOF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19636622-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.PMID 19636622Read ↗

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.Semantic proximity Read ↗

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.Semantic proximity Read ↗

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Semantic proximity Read ↗

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.Semantic proximity Read ↗

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.Semantic proximity Read ↗

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).Semantic proximity Read ↗

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.Semantic proximity Read ↗

Five new OTOF gene mutations and auditory neuropathy.Semantic proximity Read ↗

Auditory neuropathy or endocochlear hearing loss?Semantic proximity Read ↗

Results of cochlear implantation in two children with mutations in the OTOF gene.Semantic proximity Read ↗

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!Semantic proximity Read ↗

Hearing loss secondary to variants in the OTOF gene.Semantic proximity Read ↗

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