Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Definition
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Also known as CLN8 disease, Northern epilepsy variant, early onset familial encephalopathy with neuroserpin inclusion bodies, EPMR, NCL, Northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant, Northern epilepsy, progressive epilepsy with intellectual disability, northern epilepsy, progressive epilepsy-intellectual disability syndrome, Finnish type, progressive myoclonic epilepsy with neuroserpin inclusion bodies — per MONDO