PMID- 35021279
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220127
IS  - 1738-6586 (Print)
IS  - 2005-5013 (Electronic)
IS  - 1738-6586 (Linking)
VI  - 18
IP  - 1
DP  - 2022 Jan
TI  - Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence 
      of Detectable Somatic mTOR Pathway Mutations in the Brain.
PG  - 71-78
LID - 10.3988/jcn.2022.18.1.71 [doi]
AB  - 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.
CI  - Copyright (c) 2022 Korean Neurological Association.
FAU - Ko, Ara
AU  - Ko A
AUID- ORCID: 0000-0002-3008-8432
AD  - Department of Pediatrics, Pusan National University Children's Hospital, Pusan 
      National University School of Medicine, Yangsan, Korea.
FAU - Sim, Nam Suk
AU  - Sim NS
AUID- ORCID: 0000-0002-5567-8076
AD  - Graduate School of Medical Science and Engineering, Korea Advanced Institute of 
      Science and Technology (KAIST), Daejeon, Korea.
FAU - Choi, Han Som
AU  - Choi HS
AUID- ORCID: 0000-0002-5818-7985
AD  - Department of Pediatrics, Ewha Womans University Seoul Hospital, Ewha Womans 
      University School of Medicine, Seoul, Korea.
AD  - Division of Pediatric Neurology, Department of Pediatrics, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea.
FAU - Yang, Donghwa
AU  - Yang D
AUID- ORCID: 0000-0002-1580-9406
AD  - Department of Pediatrics, National Health Insurance Service Ilsan Hospital, 
      Goyang, Korea.
FAU - Kim, Se Hee
AU  - Kim SH
AUID- ORCID: 0000-0001-7773-1942
AD  - Division of Pediatric Neurology, Department of Pediatrics, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea.
FAU - Lee, Joon Soo
AU  - Lee JS
AUID- ORCID: 0000-0001-9036-9343
AD  - Division of Pediatric Neurology, Department of Pediatrics, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea.
FAU - Kim, Dong Seok
AU  - Kim DS
AUID- ORCID: 0000-0001-8210-170X
AD  - Department of Neurosurgery, Pediatric Neurosurgery, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea.
FAU - Lee, Jeong Ho
AU  - Lee JH
AUID- ORCID: 0000-0002-2299-630X
AD  - Graduate School of Medical Science and Engineering, Korea Advanced Institute of 
      Science and Technology (KAIST), Daejeon, Korea.
FAU - Kim, Heung Dong
AU  - Kim HD
AUID- ORCID: 0000-0002-8031-7336
AD  - Division of Pediatric Neurology, Department of Pediatrics, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea. hdkimmd@yuhs.ac.
FAU - Kang, Hoon-Chul
AU  - Kang HC
AUID- ORCID: 0000-0002-3659-8847
AD  - Division of Pediatric Neurology, Department of Pediatrics, Severance Children's 
      Hospital, Yonsei University College of Medicine, Seoul, Korea. hipo0207@yuhs.ac.
LA  - eng
GR  - 6-2021-0007/Yonsei University College of Medicine/Korea
GR  - HI21C1659/Korea Health Industry Development Institute/Republic of Korea
PT  - Journal Article
PL  - Korea (South)
TA  - J Clin Neurol
JT  - Journal of clinical neurology (Seoul, Korea)
JID - 101252374
PMC - PMC8762511
OTO - NOTNLM
OT  - epilepsy
OT  - focal cortical dysplasia
OT  - ketogenic diet
OT  - mTORopathies
OT  - mammalian target of rapamycin
OT  - somatic mutation
COIS- Hoon-Chul Kang, an assoicate editor of the Journal of Clinical Neurology, was not 
      involved in the editorial evaluation or decision to publish this article. All 
      remaining authors have declared no conflicts of interest.
EDAT- 2022/01/13 06:00
MHDA- 2022/01/13 06:01
PMCR- 2022/01/01
CRDT- 2022/01/12 20:17
PHST- 2020/12/21 00:00 [received]
PHST- 2021/07/26 00:00 [revised]
PHST- 2021/07/26 00:00 [accepted]
PHST- 2022/01/12 20:17 [entrez]
PHST- 2022/01/13 06:00 [pubmed]
PHST- 2022/01/13 06:01 [medline]
PHST- 2022/01/01 00:00 [pmc-release]
AID - 18.71 [pii]
AID - 10.3988/jcn.2022.18.1.71 [doi]
PST - ppublish
SO  - J Clin Neurol. 2022 Jan;18(1):71-78. doi: 10.3988/jcn.2022.18.1.71.