CSTB: from cell to population and back
Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally...
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| Format: | conferenceObject |
| Language: | eng |
| Published: |
2017
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| Online Access: | http://hdl.handle.net/10400.18/4343 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/4343 |
| Summary: | Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally, exploring the cellular phenotype in order to assess the involvement of lysosomes. |
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