ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38
Abstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. This condition typically manifests between 4 and 7 months. Recent investigations have established a correlation between mutations in the A...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-02-01
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| Series: | Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s44162-025-00066-1 |
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