Publications by authors named "Praveen K Raju"
Article Synopsis
- The TRIO gene has been linked to intellectual deficiency, autism spectrum disorder, and developmental epileptic encephalopathies due to recessive and de novo mutations.
- Research indicates that TRIO is essential for the migration of GABAergic interneurons, specifically regulating their movement during brain development through its guanine nucleotide exchange factor (GEF) domains.
- In studies involving Trio mutant mice, findings revealed reduced numbers of migrating interneurons, leading to increased seizures and behavioral issues, highlighting TRIO's crucial role in maintaining cortical inhibition and proper neuronal migration dynamics.
Article Synopsis
- This study investigates the CACNA1A gene mutations linked to developmental epileptic encephalopathies (DEEs) in children, focusing on their diverse genetic impacts.
- Four specific de novo mutations were analyzed, revealing two (G230V and I1357S) cause loss-of-function effects, while two others (A713T and V1396M) exert gain-of-function effects on calcium channel activity.
- The research emphasizes the importance of functional validation of these mutations to understand DEE pathways better and inform potential therapeutic approaches.
Article Synopsis
- Proteins attached to the cell surface by GPI play crucial roles in human development and neurogenesis; mutations in the GPI biosynthesis pathway lead to various developmental disorders.
- A study identified ten unrelated families with mutations in the PIGB gene, causing reduced levels of GPI-anchored proteins, which is linked to developmental delays, seizures, and other neurological issues in affected individuals.
- Eight children in the study died young, and the findings suggest a potential overlap in molecular pathways between inherited GPI deficiency and DOORS syndrome, particularly in severely affected cases.
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining expression of the JME phenotype among individuals carrying EFHC1 mutations. Here, we report on our studies on EFHC1 in JME patients from India.
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