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Missense Variants in the N-terminal Domain of the A Isoform of FHF2/FGF13 Cause an X-linked Developmental and Epileptic Encephalopathy.

Andrew E. Fry,Christopher Marra,Anna Derrick,William O. Pickrell,Adam T. Higgins,Johann te Water Naude,Martin A. McClatchey,Sally J. Davies,Kay A. Metcalfe,Hui Jeen Tan,Rajiv Mohanraj,Shivaram Avula,Denise Williams,Lauren Brady,Ronit Mesterman,Mark A. Tarnopolsky,Yuehua Zhang,Ying Yang,Xiaodong Wang,Mark Rees,Mitchell Goldfarb,Seo-Kyung Chung

American journal of human genetics（2021）

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