Article
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Human molecular genetics - 25 Nov 2020
Al-Shekaili Hilal H, Petkau Terri L, Pena Izabella, Lengyell Tess C, Verhoeven-Duif Nanda M, Ciapaite Jolita, Bosma Marjolein, van Faassen Martijn, Kema Ido P, Horvath Gabriella, Ross Colin, Simpson Elizabeth M, Friedman Jan M, van Karnebeek Clara, Leavitt Blair R
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway. PDE is characterized by recurrent seizures that are resistant to conventional anticonvulsant treatment but are well-controlled by pyridoxine (PN). Most PDE patients also suffer from neurodevelopmental deficits despite adequate seizure control with...
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