Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13701
Abstract: TBC1D24 (#MIM 613577) variants-associated diseases include a wide spectrum of epilepsy, drug-resistant multifocal myoclonus, and epilepsia partialis continua. 1,2 Reports of abdominal myoclonus 3 and no scalp electroencephalogram (EEG) correlation during myoclonus 1 have suggested… read more here.
Keywords: tbc1d24; therapy multifocal; myoclonus; baclofen therapy ... See more keywords
The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14620
Abstract: The ribbon synapses of cochlear inner hair cells (IHCs) employ efficient vesicle resupply to enable fast and sustained release rates. However, the molecular mechanisms of these physiological activities remain unelucidated. Previous studies showed that the… read more here.
Keywords: hair cells; hearing loss; tbc1d24; hair ... See more keywords