Northern epilepsy

Disease Overview

Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.[9597][9561][9562]

Synonyms

• CLN8
• Neuronal ceroid lipofuscinosis 8
• Ceroid lipofuscinosis neuronal 8
• CLN8 disease, late infantile (subtype)
• CLN8 disease, EPMR (subtype)
• Progressive epilepsy-intellectual disability syndrome, Finnish type
• CLN8 disease, Northern epilepsy variant
• NCL, Northern epilepsy variant
• Neuronal ceroid lipofuscinosis, Northern epilepsy variant
• Progressive epilepsy - intellectual disability, Finnish type