Publications by authors named "Sriramakrishnan Vayanakkan"
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the gene.
Radha Mahadevan Rahul C Bhoyar Natarajan Viswanathan Raskin Erusan Rajagopal Bobby Essaki Sriramakrishnan Vayanakkan
Brain Commun
December 2020
Article Synopsis
- Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy is a non-progressive neurological disorder marked by tremors and is inherited in an autosomal dominant manner with a high penetrance.
- In South India, a study involving a large cohort revealed the disorder in 48 families, but the specific genetic defect was initially unidentified.
- The whole-genome analysis of affected and unaffected individuals identified repeat expansions in a specific gene on chromosome 8, making it the largest and most detailed genetic study of this condition in a single ethnic group, the "Nadar" community.