Ravishankara Bellampalli
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View article: SUDEP risk is influenced by longevity genomics: a polygenic risk score study
SUDEP risk is influenced by longevity genomics: a polygenic risk score study Open
The Amelia Roberts Fund; CURE Epilepsy; Epilepsy Society, UK; Finding A Cure for Epilepsy and Seizures (FACES).
View article: Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes Open
Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear. Using 2,348,438 single-nuclei pr…
View article: The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy
The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy Open
Heatwaves have serious impacts on human health and constitute a key health concern from anthropogenic climate change. People have different individual tolerance for heatwaves or unaccustomed temperatures. Those with epilepsy may be particu…
View article: Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing Open
Objective Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures with electroencephalographic paroxysms, and photosensitivity…
View article: Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition Open
Dravet syndrome is an archetypal rare severe epilepsy, considered ‘monogenic’, typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by dif…
View article: Single-cell Mendelian randomisation identifies cell-type specific genetic effects on human brain disease and behaviour
Single-cell Mendelian randomisation identifies cell-type specific genetic effects on human brain disease and behaviour Open
Translating genome-wide association loci to therapies requires knowledge of the causal genes, their directionality of effect and the cell-types in which they act. To infer these relationships in the human brain, we implemented Mendelian ra…
View article: Adult neural stem cells have latent inflammatory potential that is kept suppressed by <i>Tcf4</i> to facilitate adult neurogenesis
Adult neural stem cells have latent inflammatory potential that is kept suppressed by <i>Tcf4</i> to facilitate adult neurogenesis Open
Neural stem cells in the adult brain have inflammatory potential that is kept suppressed by psychiatric disease gene Tcf4.