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.

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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
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article

P502: Unpacking genotype-phenotype correlation in DNM1 encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains

Sureni V. Mullegama, Kate Richardson, Catherine Crain, Kathleen Shields et al.
Genetics in Medicine Open
Metabolism and Genetic Disorders
article

P502: Unpacking genotype-phenotype correlation in DNM1 encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains

Sureni V. Mullegama, Kate Richardson, Catherine Crain, Kathleen Shields, Hope Northrup, Gretchen Von Allmen
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
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Openalex Percentile: Top 93%
Metabolism and Genetic Disorders
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P502: Unpacking genotype-phenotype correlation in DNM1 encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains — Sureni V. Mullegama, Kate Richardson, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS