Bruria Ben Zeev on Muck Rack

Bruria Ben Zeev

As seen in: Nature
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Articles

Expanding the phenotypic spectrum of FGF12 -epilepsy—does prompt precision therapy affect outcomes?

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By Leo Arkush, Kristina Karandasheva, Alissa M. D’Gama, Beth Rosen Sheidley, Nicole Liang, Vann Chau, Gregory Costain, Lacey Smith , Anoushka Alwis, Christin Eltze, Annapurna Poduri, Felice D’Arco, Josh Adams, Kristen Lee, Jaspal Singh, Alexander Brown, Ben Pode-Shakked, Michal Tzadok, Amy Mctague, Frédérique Ouellet, Arjuna Nagendran, Bruria Ben Zeev
| Nature
Abstract Fibroblast growth factor-12 (FGF12) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Nav1.2 and Nav1.6. We aim to expand the phenotypic spectrum of FGF12-related epilepsy with emphasis on precision therapy.
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