FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner. Cell Commun Signal. 2020 May 1;18(1):69. doi: ...
Jul 9, 2020 · Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy ( ...
Jul 21, 2022 · FHF1 reduces sodium conductance through its effects on peak INa density, whereas FHF2 exerts its major effects on conduction through changes in ...
Conclusions: Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and ...
Oct 28, 2016 · FHF2 mutation is a rare cause of generalized epilepsy with febrile seizures plus (GEFS+). Recently, a de novo FHF1 mutation (p.R52H) was ...
Here we set out to determine the biophysical effects of FHF1 versus FHF2 on sodium channels in murine and human cardiomyocytes. Methods. Sodium currents from ...
Nov 21, 2020 · FHF1 developmental and epileptic encephalopathy: recurrent p. ... FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating.