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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myoclonus epilepsy
Comorbidity C0751122|dravet syndrome
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PubMedID- 25732146 Here we have addressed this question by studying tay-sachs disease, a representative lysosomal storage disease, and dravet syndrome, a form of severe myoclonic epilepsy in infancy, using human in cells with feature of immature postmitotic glutamatergic neuronal cells.

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