P502: Unpacking genotype-phenotype correlation in DNM1 encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains
Patient 1 has maintained seizure remission on clobazam and levetiracetam, and she has been seizure-free since the age of four. At age two, Patient 2 was started on levetiracetam which was soon discontinued due to behavioral side effects. She was then switched to zonisamide that provided minimal seizure control. Finally, she was placed on clobazam which resulted in sustained seizure remission.
Authors
- Sureni V. Mullegama (ORCID: https://orcid.org/0000-0002-0673-7084)
- Kate Richardson (ORCID: https://orcid.org/0000-0001-7331-3655)
- Catherine Crain
- Kathleen Shields (ORCID: https://orcid.org/0000-0002-2677-4253)
- Hope Northrup (ORCID: https://orcid.org/0000-0002-2892-0840)
- Gretchen Von Allmen (ORCID: https://orcid.org/0000-0002-3538-5284)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103369
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00