Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in <i>DNM1</i>
Heterozygous pathogenic variants in <i>DNM1</i> are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in <i>DNM1</i> were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-11-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/12/2252 |