Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain

Ara Ko, Nam Suk Sim, Han Som Choi, Donghwa Yang, Se Hee Kim, Joon Soo Lee, Dong Seok Kim, Jeong Ho Lee, Heung Dong Kim, Hoon Chul Kang

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1 Citation (Scopus)

Abstract

Background and Purpose A multifactorial antiepileptic mechanism underlies the ketogenic diet (KD), and one of the proposed mechanisms of action is that the KD inhibits the mammalian target of rapamycin (mTOR) pathway. To test this clinically, this study aimed to determine the efficacy of the KD in patients with pathologically confirmed focal cortical dysplasia (FCD) due to genetically identifiable mTOR pathway dysregulation. Methods A cohort of patients with pathologically confirmed FCD after epilepsy surgery and who were screened for the presence of germline and somatic mutations related to the mTOR pathway in peripheral blood and resected brain tissue was constructed prospectively. A retrospective review of the efficacy of the prior KD in these patients was performed. Results Twenty-five patients with pathologically confirmed FCD and who were screened for the presence of detectable somatic mTOR pathway mutations had received a sufficient KD. Twelve of these patients (48.0%) had germline or somatic detectable mTOR pathway mutations. A response was defined as a ≥50% reduction in seizure frequency. The efficacy of the KD after 3 months of dietary therapy was superior in patients with detectable mTOR pathway mutations than in patients without detectable mTOR pathway mutations, although the difference was not statistically significant (responder rates of 58.3% vs. 38.5%, p=0.434). Conclusions A greater proportion of patients with mTOR pathway responded to the KD, but there was no statistically significant difference in efficacy of the KD between patients with and without detectable mTOR pathway mutations. Further study is warranted due to the smallness of the sample and the limited number of mTOR pathway genes tested in this study.

Original languageEnglish
Pages (from-to)71-78
Number of pages8
JournalJournal of Clinical Neurology (Korea)
Volume18
Issue number1
DOIs
Publication statusPublished - 2022 Jan

Bibliographical note

Funding Information:
This research was supported by a grant of Team Science Award of Yonsei University College of Medicine (grant/award number: 6-2021-0007), and a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI21C1659).

Publisher Copyright:
© 2022 Korean Neurological Association.

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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