neuronal ceroid lipofuscinosis 8 northern epilepsy variant

A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material

A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Clumsiness
• Cerebral atrophy
• EEG abnormality
• Cerebellar atrophy
• Focal impaired awareness seizure
• Increased neuronal autofluorescent lipopigment
• Irritability
• Restlessness
• Mental deterioration

Also known as: EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, northern epilepsy; progressive epilepsy-intellectual disability syndrome, Finnish type