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Jun 7, 2016 · Conclusions: Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy. © 2016 American Academy of Neurology.
Oct 28, 2016 · Voltage-gated sodium channels (Na v s) are mainstays of neuronal function, and mutations in the genes encoding CNS Na v s (Na v 1.1 [SCN1A], Na v 1.2 [SCN2A], Na v 1.3 [SCN3A], and Na v 1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE). 1 Fibroblast-growth-factor homologous ...
May 1, 2020 · FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner.
May 1, 2020 · FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner - PMC. Journal List. Cell Commun Signal. v.18; 2020. PMC7193404. As a library, NLM provides access to scientific literature.
May 1, 2020 · FHF1 binding causes efficient FGFR activation and initiation of receptor-dependent signaling cascades. However, the biological effect of FHF1 differs from the one elicited by canonical FGFs, as extracellular FHF1 protects cells from apoptosis, but is unable to stimulate cell division.
May 16, 2022 · Fibroblast growth factor homologous factors serve as a molecular rheostat in tuning arrhythmogenic cardiac late sodium current. Nourdine Chakouri, Sharen Rivas, Daniel Roybal, Lin Yang,...
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 of 17 patients with FHF1-DEE.
