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Results 1 - 4 of 4 for Ceroid "lipofuscinosis," "neuronal," "8," northern epilepsy variant
  1. Genetics Home Reference: Northern epilepsy From the National Institutes of Health (National Library of Medicine)  
    ... Gene Review: Neuronal Ceroid-Lipofuscinoses Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant You might also find information on the diagnosis ...
  2. Rare Diseases Clinical Research Network (Rare Diseases Clinical Research Network)  
    ... syndrome I-cell disease Krabbe disease Late Infantile Neuronal ... Disease Pycnodysostosis Sandhoff disease Sanfilippo syndrome A ...
  3. What Is Batten Disease (Batten Disease Support and Research Association)  
    ... correlations Epilepsy with Progressive Mental Retardation (EPMR) or Northern Epilepsy This disease is caused by mutations in CLN8 ... the time of diagnosis. By the age of 8-10 years severe deterioration of ... Spasticity, dystonic posturing, tremors, and other extrapyramidal signs ...
  4. Batten Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... function has not been identified. MFSD8 , seen in variant Late Infantile NCL ... progressive epilepsy with mental retardation. The gene encodes a protein ...