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.

This article was originally published on MedicalXpress.com

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