Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature - Takeaways - 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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  • 1

    The MARK2 gene variant is linked to epilepsy and autism spectrum disorder, with seizures reported in 46.4% of affected individuals.

  • 2

    An 11-year-old male with a MARK2 variant experienced nocturnal tonic seizures and focal impaired-consciousness seizures.

  • 3

    Oxcarbazepine provided partial seizure control, while perampanel effectively reduced nocturnal seizures and improved sleep.

  • 4

    The patient has remained seizure-free since 9 years 9 months on combined therapy, marking a significant treatment response.

  • 5

    This case is the first detailed report of MARK2-related epilepsy, highlighting the need for further research on seizure phenotypes.

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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