Navprabhjot Kaur
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View article: A translational multimodal machine-learning prototype predicting valproate response in epilepsy treatment
A translational multimodal machine-learning prototype predicting valproate response in epilepsy treatment Open
Epilepsy affects around 1% of the global population and often requires long-term treatment with antiseizure medications (ASMs). However, the current treatment strategy is based on clinical acumen and trial and error, resulting in only abou…
View article: Identification of a Second‐Hit Brain Somatic <scp> <i>DEPDC5</i> </scp> Variant Supports Causality of a <scp> <i>DEPDC5</i> </scp> Germline Variant of Uncertain Significance. Time for a Classification Update?
Identification of a Second‐Hit Brain Somatic <span> <i>DEPDC5</i> </span> Variant Supports Causality of a <span> <i>DEPDC5</i> </span> Germline Variant of Uncertain Significance. Time for a Classification Update? Open
Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somati…
View article: Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy
Detecting somatic variants in purified brain <span>DNA</span> obtained from surgically implanted depth electrodes in epilepsy Open
Objective Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies. Traditional methods relying on surgically resected brai…
View article: Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique
Identification of a mosaic <i>MTOR</i> variant in purified neuronal <span>DNA</span> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique Open
Objective Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery, which is not available in most patients. The use of trace tissue adherent to depth…
View article: Identification of a novel mosaic<i>MTOR</i>variant in purified neuronal DNA from depth electrodes in a patient with focal cortical dysplasia
Identification of a novel mosaic<i>MTOR</i>variant in purified neuronal DNA from depth electrodes in a patient with focal cortical dysplasia Open
Background Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery which is not available in most patients. The use of trace tissue adherent to depth…
View article: Phenotypic and Genotypic Analysis of Summer Mungbean Rhizobia
Phenotypic and Genotypic Analysis of Summer Mungbean Rhizobia Open
Phenotypic and genotypic diversity of rhizobia isolated from root and soil rhizosphere of summer mungbean was assessed on the basis of plant growth promoting traits and using RAPD primers. In present studies, isolates of rhizobia from nodu…