0000000000790275
AUTHOR
Ilaria Rivolta
showing 2 related works from this author
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
2018
International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segre…
In Vitro–In Vivo Fluctuation Spectroscopies
2010
Fluorescence correlation spectroscopy (FCS) was first developed for biophysical studies in analogy with photon scattering correlation spectroscopy. Although it is mainly devoted to the study of freely diffusing particles, FCS is actually able to discern between different kinds of motions, such as diffusion, anomalous diffusion, or drift motions. The frontier application of FCS nowadays is in medical studies both within cells and on the cell membranes, and in the investigation of single molecules in solid matrices. In this field, FCS originated also image correlation spectroscopy methods. The whole field can be unified under the name of fluorescence fluctuation spectroscopy (FFS). We present…