Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

doi:10.1111/epi.16582

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Article

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Epilepsia - 1 Jul 2020

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

Abstract excerpt

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 electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data...

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PMID: 32645220
DOI: 10.1111/epi.16582
PMCID: PMC8168379

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