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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Phenotype C0524851|neurodegenerative disorders
Sentences 2
PubMedID- 23622391 Neuronal ceroid lipofuscinoses (ncl) represent a group of autosomal recessive neurodegenerative disorders, presenting with myoclonic epilepsy, psychomotor delay, progressive loss of vision, and early death.
PubMedID- 25356388 Altered sl levels have been associated with many neurodegenerative disorders, including epilepsy, although few direct links have been identified between genes involved in sl metabolism and epilepsy.

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