Rare homozygous CNPY3 variant causing autosomal recessive developmental and epileptic encephalopathy 60: A case report
Introduction: Epilepsy is one of the most common neurological disorders, affecting around 50 million people globally. Developmental and epileptic encephalopathy 60 (DEE60) is an autosomal recessive disorder caused by mutations in the Canopy FGF signaling regulator 3 (CNPY3) gene. Symptoms start in i...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Rare |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008725000250 |
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