Voltage‐gated sodium channels in genetic epilepsy: Up and down of excitability

E Rusina, M Simonti, F Duprat, S Cestèle… - Journal of …, 2023 - Wiley Online Library
The past two decades have witnessed a wide range of studies investigating genetic variants
of voltage‐gated sodium (NaV) channels, which are involved in a broad spectrum of …

The FGF/FGFR system in the microglial neuroinflammation with Borrelia burgdorferi: likely intersectionality with other neurological conditions

G Parthasarathy, MB Pattison, CC Midkiff - Journal of Neuroinflammation, 2023 - Springer
Background Lyme neuroborreliosis, caused by the bacterium Borrelia burgdorferi affects
both the central and peripheral nervous systems (CNS, PNS). The CNS manifestations …

Challenges and future directions of SUDEP models

JX Gu, WH Shao, L Liu, YL Wang, Y Yang, ZY Zhang… - Lab Animal, 2024 - nature.com
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death among
patients with epilepsy, causing a global public health burden. The underlying mechanisms …

FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

M Sochacka, R Karelus, L Opalinski… - Cell Communication and …, 2022 - Springer
Among the FGF proteins, the least characterized superfamily is the group of fibroblast growth
factor homologous factors (FHFs). To date, the main role of FHFs has been primarily seen in …

Modulating effects of FGF12 variants on NaV1. 2 and NaV1. 6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A …

S Seiffert, M Pendziwiat, T Bierhals, H Goel… - …, 2022 - thelancet.com
Summary Objective Fibroblast Growth Factor 12 (FGF12) may represent an important
modulator of neuronal network activity and has been associated with developmental and …

Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism

S Lin, AR Gade, HG Wang, JE Niemeyer, A Galante… - eLife, 2025 - elifesciences.org
Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological
disorders characterized by recurrent seizures and exacerbated by disruptions to …

FGF12: biology and function

M Biadun, R Karelus, D Krowarsch, L Opalinski… - Differentiation, 2024 - Elsevier
Abstract Fibroblast growth factor 12 (FGF12) belongs to the fibroblast growth factor
homologous factors (FHF) subfamily, which is also known as the FGF11 subfamily. The …

Spontaneous seizures in adult Fmr1 knockout mice: FVB. 129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

JL Armstrong, TS Saraf, O Bhatavdekar, CE Canal - Epilepsy research, 2022 - Elsevier
The prevalence of seizures in individuals with fragile X syndrome (FXS) is~ 25%; however,
there are no reports of spontaneous seizures in the Fmr1 knockout mouse model of FXS …

The intracellular interplay between galectin-1 and FGF12 in the assembly of ribosome biogenesis complex

A Gędaj, A Chorążewska, K Ciura, R Karelus… - Cell Communication and …, 2024 - Springer
Galectins constitute a class of lectins that specifically interact with β-galactoside sugars in
glycoconjugates and are implicated in diverse cellular processes, including transport …

Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death

C Sutter, C Haas, PK Bode, J Neubauer… - Clinical …, 2024 - Springer
Background Sudden unexplained death (SUD) is a devastating event in the young. Despite
efforts to identify causal genetic variants, many cases remain unexplained after genetic …