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This case focuses on a genetic mutation related to Creutzfeldt-Jakob disease that leads to refractory seizures.

June 13, 2026Neurology

A Case of Genetic Creutzfeldt-Jakob Disease (CJD) E200K-129M Mutation Manifesting with Refractory Seizures (P11-12.008)

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This case focuses on a genetic mutation related to Creutzfeldt-Jakob disease that leads to refractory seizures.
Detailed clinical assessment of the patient’s symptoms
Genetic analysis to identify E200K-129M mutation
Review of medical history and seizure episodes
Patient exhibited refractory seizures that did not respond to standard treatment.
Identification of E200K-129M mutation confirmed the genetic basis of the disease.
Findings highlight the need for awareness of genetic mutations in CJD diagnosis.

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Case report reveals refractory seizures linked to E200K-129M mutation in a genetic CJD case, suggesting critical implications for diagnosis.

Arner et al. (2026) studied this question.

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Case report reveals refractory seizures linked to E200K-129M mutation in a genetic CJD case, suggesting critical implications for diagnosis.