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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Опубликовано в: :Epilepsia
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2020
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Article
Online-ссылка: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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