Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy

Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy (ADCME) is a non-progressive disorder characterized by distal tremors. Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispositions of autosomal dominant inheritance with a high degree of penetrance.

The whole-genome sequencing of patients in an endogamous South Indian community identified a repeat expansion in SAMD12 gene which was further confirmed in over a hundred patients. This is the largest and most comprehensive single report on clinically and genetically characterized Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy patients belonging to a unique ethnic group from South India.

Brain Communications, Volume 3, Issue 1, 2021, fcaa214, https://doi.org/10.1093/braincomms/fcaa214