Article
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.
Neurobiology of disease - 1 Jul 2022
Robens Barbara K, Yang Xinzhu, McGraw Christopher M, Turner Laura H, Robens Carsten, Thyme Summer, Rotenberg Alexander, Poduri Annapurna
Abstract excerpt
Epilepsy is one of the most common neurological disorders. The X-linked gene PCDH19 is associated with sporadic and familial epilepsy in humans, typically with early-onset clustering seizures and intellectual disability in females but not in so-called 'carrier' males, suggesting that mosaic PCDH19 expression is required to produce epilepsy. To characterize the role of loss of PCDH19 function in epilepsy, we...
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