Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of
[ncbi.nlm.nih.gov]
Abstract The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy
[ncbi.nlm.nih.gov]
Test Details Test code: 6022 Type of disorder: Epilepsy Disease(s) tested for: Epilepsy Genes Included: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, TPP1, ATP13A2
[athenadiagnostics.com]