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Modulating effects of <i>FGF12</i> variants on Na <sub>V</sub> 1.2 and Na <sub>V</sub> 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

2021-12-06

Abstract excerpt

<h4>Objective</h4> Fibroblast growth factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders. <h4>Methods</h4> Patients with pathogenic variants in FGF12 were identified through published case reports, GeneMatcher and whole exom...

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Literature Corpus work
b8f85e01-b011-5be8-98e8-cc877a7adda6
DOI
10.1101/2021.12.03.471090
Open publication

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Modulating effects of <i>FGF12</i> variants on Na <sub>V</sub> 1.2 and Na <sub>V</sub> 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum DisorderDOI 10.1101/2021.12.03.471090
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