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

DC Field Value Language
dc.contributor.author강훈철-
dc.contributor.author김동석-
dc.contributor.author김세희-
dc.contributor.author김흥동-
dc.contributor.author이준수-
dc.contributor.author최한솜-
dc.date.accessioned2022-03-11T06:08:30Z-
dc.date.available2022-03-11T06:08:30Z-
dc.date.issued2022-01-
dc.identifier.issn1738-6586-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/187956-
dc.description.abstractBackground 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.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherKorean Neurological Association-
dc.relation.isPartOfJOURNAL OF CLINICAL NEUROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleEfficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학교실)-
dc.contributor.googleauthorAra Ko-
dc.contributor.googleauthorNam Suk Sim-
dc.contributor.googleauthorHan Som Choi-
dc.contributor.googleauthorDonghwa Yang-
dc.contributor.googleauthorSe Hee Kim-
dc.contributor.googleauthorJoon Soo Lee-
dc.contributor.googleauthorDong Seok Kim-
dc.contributor.googleauthorJeong Ho Lee-
dc.contributor.googleauthorHeung Dong Kim-
dc.contributor.googleauthorHoon-Chul Kang-
dc.identifier.doi10.3988/jcn.2022.18.1.71-
dc.contributor.localIdA00102-
dc.contributor.localIdA00402-
dc.contributor.localIdA00611-
dc.contributor.localIdA01208-
dc.contributor.localIdA03177-
dc.contributor.localIdA05434-
dc.relation.journalcodeJ01327-
dc.identifier.eissn2005-5013-
dc.identifier.pmid35021279-
dc.subject.keywordepilepsy-
dc.subject.keywordfocal cortical dysplasia-
dc.subject.keywordketogenic diet-
dc.subject.keywordmTORopathies-
dc.subject.keywordmammalian target of rapamycin-
dc.subject.keywordsomatic mutation-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.affiliatedAuthor강훈철-
dc.contributor.affiliatedAuthor김동석-
dc.contributor.affiliatedAuthor김세희-
dc.contributor.affiliatedAuthor김흥동-
dc.contributor.affiliatedAuthor이준수-
dc.contributor.affiliatedAuthor최한솜-
dc.citation.volume18-
dc.citation.number1-
dc.citation.startPage71-
dc.citation.endPage78-
dc.identifier.bibliographicCitationJOURNAL OF CLINICAL NEUROLOGY, Vol.18(1) : 71-78, 2022-01-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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