Study links rare genetic mutation to severe neurological disorder

A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known as developmental and epileptic encephalopathy (DEE). The findings reveal that this specific mutation in a regulatory calcium channel subunit disrupts both the calcium handling and structural connections of brain cells, expanding our understanding of how certain neurological conditions may arise.

Facebook Comments