Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
Titel:
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
Auteur:
Fry, Andrew E. Marra, Christopher Derrick, Anna V. Pickrell, William O. Higgins, Adam T. te Water Naude, Johann McClatchey, Martin A. Davies, Sally J. Metcalfe, Kay A. Tan, Hui Jeen Mohanraj, Rajiv Avula, Shivaram Williams, Denise Brady, Lauren I. Mesterman, Ronit Tarnopolsky, Mark A. Zhang, Yuehua Yang, Ying Wang, Xiaodong Rees, Mark I. Goldfarb, Mitchell Chung, Seo-Kyung