Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Fibroblast-growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electro-clinical phenotypic spectrum of patients w...

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發表在:Epilepsia
Main Authors: Trivisano, Marina, Ferretti, Alessandro, Bebin, Elizabeth, Huh, Linda, Lesca, Gaetan, Siekierska, Aleksandra, Takeguchi, Ryo, Carneiro, Maryline, De Palma, Luca, Guella, Ilaria, Haginoya, Kazuhiro, Shi, Ruo Ming, Kikuchi, Atsuo, Kobayashi, Tomoko, Jung, Julien, Lagae, Lieven, Milh, Mathieu, Mathieu, Marie L, Minassian, Berge A, Novelli, Antonio, Pietrafusa, Nicola, Takeshita, Eri, Tartaglia, Marco, Terracciano, Alessandra, Thompson, Michelle L, Cooper, Gregory M, Vigevano, Federico, Villard, Laurent, Villeneuve, Nathalie, Buyse, Gunnar M, Demos, Michelle, Scheffer, Ingrid E, Specchio, Nicola
格式: Artigo
語言:Inglês
出版: 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8168379/
https://ncbi.nlm.nih.gov/pubmed/32645220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16582
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