A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene

Autor: Algahtani, Hussein, Al-Hakami, Fahad, Al-Shehri, Mohammed, Shirah, Bader, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman, Naseer, Muhammad Imran
Zdroj: In Seizure: European Journal of Epilepsy July 2019 69:133-139
Databáze: ScienceDirect