Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature - Scorecard - MDSpire

Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature

  • By

  • Jin Sook Lee

  • You Min Kang

  • Yeseul Kim

  • Young Ok Kim

  • Jong Hee Chae

  • May 21, 2026

  • 0 min

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Clinical Scorecard: Case Study: Detailed Examination of Epileptic Phenotype in a Patient with MARK2 Variant and Literature Review

At a Glance

CategoryDetail
Condition
Key Mechanisms
Target PopulationChildren with autism spectrum disorder (ASD) and MARK2 variants associated with seizures.
Care Setting

Key Highlights

  • EEG_abnormalities

Guideline-Based Recommendations

Diagnosis

    Management

      Monitoring & Follow-up

      • Regular follow-up EEGs every 6 months to evaluate seizure activity and treatment efficacy.
      • Assess developmental milestones and behavioral issues at each visit.

      Risks

        Patient & Prescribing Data

        Combination therapy may be necessary for optimal seizure control; monitor for side effects.

        Clinical Best Practices

        • educate_families

        Related Resources & Content

        Original Source(s)

        Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature

        • by Jin Sook Lee, You Min Kang, Yeseul Kim, Young Ok Kim, Jong Hee Chae

        • May 21, 2026

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