Research is ongoing to understand the different mutations and their effects. A significant study at Boston Children's Hospital is analyzing EEG data to study KAND-associated epilepsy.
KAND is a severe disorder with varied life expectancy. Some individuals with milder forms may live into adulthood, while others experience rapid progression and life-threatening complications, with some reports citing a 5–7 year life expectancy for certain severe cases. Kand E01mp4
Common manifestations include intellectual disability, developmental delays, speech delays, hypotonia (decreased muscle tone), hyperreflexia (exaggerated reflexes), spastic paraplegia (weak/tight leg muscles), optic nerve atrophy (vision loss), peripheral neuropathy, and epilepsy. Research is ongoing to understand the different mutations
