FGF12 copy number variant associated with epileptic encephalopathy.

Anna Abraham,Keri Ramsey,Newell Belnap,Szabolcs Szelinger,Wayne Jepsen,Chris Balak, Meredith Sanchez-Castillo,Marcus Naymik, Anna Bonfitto,Sampathkumar Rangasamy,Semyon Kruglyak,Matthew Huentelman,Vinodh Narayanan

Clinical genetics（2024）

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摘要

FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.

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