相关论文: Linking a genetic defect in migraine to spreading …
Pathogenic SCN1A/NaV1.1 mutations cause well defined epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and the severe epileptic encephalopathy Dravet syndrome. In addition, they cause a severe form of migraine with…
Migraine is a common disabling headache disorder characterized by recurrent episodes sometimes preceded or accompanied by focal neurological symptoms called aura. The relation between two subtypes, migraine without aura (MWoA) and migraine…
Transient dynamics is pervasive in the human brain and poses challenging problems both in mathematical tractability and clinical observability. We investigate statistical properties of transient cortical wave patterns with characteristic…
There has recently been growing evidence that atrial fibrillation (AF), the most common cardiac arrhythmia, is independently associated with the risk of dementia. This represents a very recent frontier with high social impact for the number…
Atrial fibrillation (AF) is associated with an increased risk of dementia and cognitive decline, independent of strokes. Several mechanisms have been proposed to explain this association, but altered cerebral blood flow dynamics during AF…
Spreading depression (SD) is a wave phenomenon in gray matter tissue. Locally, it is characterized by massive re-distribution of ions across cell membranes. As a consequence, there is a sustained membrane depolarization and tissue…
Migraine patients with aura show a peculiar pattern of visual reactivity compared with those of migraine patients without aura: an increased effective connectivity, connected to a reduced synchronization among EEG channels, for frequencies…
We investigate different dynamical regimes of neuronal network in the CA3 area of the hippocampus. The proposed neuronal circuit includes two fast- and two slowly-spiking cells which are interconnected by means of dynamical synapses. On the…
Alzheimer's disease (AD) and mild cognitive impairment (MCI) are associated with progressive gray matter loss, particularly in medial temporal structures. In this study, CAT12/SPM12 voxel-based morphometry was applied to baseline…
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders,…
Background: Recent genome-wide association studies (GWAS) have identified a large number of genetic risk factors for schizophrenia (SCZ) featuring ion channels and calcium transporters. For some of these risk factors, independent prior…
We study the middle cerebral artery blood flow velocity (MCAfv) in humans using transcranial Doppler ultrasonography (TCD). Scaling properties of time series of the axial flow velocity averaged over a cardiac beat interval may be…
Synchronization is an important collective phenomenon in interacting oscillatory agents. Many functional features of the brain are related to synchronization of neurons. The type of synchronization transition that may occur (explosive vs.…
SCN2A encodes the alpha subunit of the voltage-gated sodium channel Nav1.2, which is involved in action potential initiation and backpropagation in glutamatergic neurons. Mutations in the gene lead to SCN2A-related disorders, which are…
Background: Mathematical modeling approaches are becoming ever more established in clinical neuroscience. They provide insight that is key to understand complex interactions of network phenomena, in general, and interactions within the…
Human genetics offers a promising route to therapeutic discovery, yet practical frameworks translating genotype-derived signal into ranked target and drug hypotheses remain limited, particularly when matched disease transcriptomics are…
Late-life depression (LLD) is characterized by considerable heterogeneity in clinical manifestation. Unraveling such heterogeneity would aid in elucidating etiological mechanisms and pave the road to precision and individualized medicine.…
Neuroinflammation is a significant aspect of many neurological diseases of Homo sapiens, and the genes that are differentially expressed in this process should be well understood to gather the nature of such diseases. We have conducted a…
Mutations in proteins can have deleterious effects on a protein's stability and function, which ultimately causes particular diseases. Genetically inherited muscular dystrophies (MDs) include several genetic diseases, which cause increasing…
Synchronization in neural networks is strongly tied to the implementation of cognitive processes, but abnormal neuronal synchronization has been linked to a number of brain disorders such as epilepsy and schizophrenia. Here we examine the…