hearing loss/seizures

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Deficiency of Vlgr1 resulted in deafness and susceptibility to audiogenic seizures while the degree of hearing impairment was not correlated with seizure severity in C57BL/6- and 129-backcrossed lines of Vlgr1 knockout mice.

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Logáil Isteach / Cláraigh

Vlgr1 (very large G-protein coupled receptor 1) knockout mice against hybrid backgrounds of the 129/Ola and C57BL/6 mouse strains show hearing deficit and high susceptibility to audiogenic seizures. The present study examined how hearing impairment and susceptibility to audiogenic seizures in

Bilateral vision, hearing impairment, and decreased level of consciousness in a patient hospitalized for new-onset seizure.

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Logáil Isteach / Cláraigh

Middle-aged patients who present with new-onset visual loss, hearing impairment, or decreased level of consciousness usually represent a broad differential diagnosis. We present a 57-year-old man who developed all these symptoms a few days after hospitalization for new-onset seizures.

[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome].

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Logáil Isteach / Cláraigh

We report the observations of three sisters with the same autosomal recessive syndrome characterized by growth retardation, microcephaly, mental deficiency, seizures, sensorineural hearing loss, and skin lesions. The congenital nature of these symptoms was confirmed by their high prevalence among

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

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Logáil Isteach / Cláraigh

Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq

Roles of anoxia and noise-induced hearing loss in the postictal refractory period for audiogenic seizures in mice.

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Logáil Isteach / Cláraigh

The present series of experiments demonstrated a postictal refractory period for audiogenic seizures in DBA/2J mice, which was not related to hearing loss but apparently was related to anoxia. Unlike many previous studies, Experiment 1 controlled for the effects of noise exposure upon hearing

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

We report on a 1-year-old boy with microcephaly with a simplified gyral pattern, early-onset seizures, congenital hearing loss and a severe developmental delay. Trio-based whole-exome sequencing identified candidate compound heterozygous mutations in two genes: c.163G>T (p.Ala55Ser) and c.874G>A

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

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Logáil Isteach / Cláraigh

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures

Comparison of acute, chronic and post-treatment effects of carbamazepine and vinpocetine on hearing loss and seizures induced by 4-aminopyridine.

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Logáil Isteach / Cláraigh

OBJECTIVE To compare the acute, chronic and post-treatment effects of the classic antiepileptic drug carbamazepine (CBZ) and the potential antiepileptic vinpocetine (VPC), successfully used in the treatment of brain vascular origin disorders, on 4-aminopyridine (4-AP)-induced increase in auditory

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

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Logáil Isteach / Cláraigh

Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in

Temporal lobe encephalocoele presenting with seizures and hearing loss.

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Logáil Isteach / Cláraigh

A case of a bilateral temporal lobe encephalocoele that presented as seizures and hearing loss for many years. Diagnosis was confirmed on CT and MR imaging, which showed deficiencies in the temporal bone. The patient subsequently underwent surgical repair and recovered from his presenting symptoms.

Early age conductive hearing loss causes audiogenic seizure and hyperacusis behavior.

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Logáil Isteach / Cláraigh

Recent clinical reports found a high incidence of recurrent otitis media in children suffering hyperacusis, a marked intolerance to an otherwise ordinary environmental sound. However, it is unclear whether the conductive hearing loss caused by otitis media in early age will affect sound tolerance

Strain differences in the development of susceptibility to audiogenic seizures after acoustic priming but not after hearing loss.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.

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Logáil Isteach / Cláraigh

Noise-induced hearing loss, auditory evoked potentials, and protection from audiogenic seizures in mice.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Effects of conductive hearing loss on auditory evoked potentials and audiogenic seizures in mice.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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