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Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy

 Ju Yun Nam  ;  Lip-Yuen Teng  ;  Kyoun Cho  ;  Hoon-Chul Kang  ;  Joon Soo Lee  ;  Heung Dong Kim  ;  Se Hee Kim 
 EPILEPSY RESEARCH, Vol.186 : 106993, 2022-10 
Journal Title
Issue Date
Brain Diseases* ; Diet, Ketogenic* / adverse effects ; Epilepsy, Generalized* ; Humans ; Infant ; Munc18 Proteins / genetics ; Qa-SNARE Proteins ; Retrospective Studies ; Seizures / drug therapy ; Steroids / therapeutic use ; Treatment Outcome
Epilepsy ; Ketogenic diet ; Pediatric ; STXBP1
Objective: We aimed to investigate the effects of ketogenic diet (KD) and modified Atkins diet (MAD) in patients with epileptic encephalopathy, caused by the STXBP1 (syntaxin-binding protein 1) gene mutation.

Methods: We retrospectively evaluated the data of patients with STXBP1-related epileptic encephalopathy who were started on either KD or MAD between January 1, 2005, and June 30, 2021, in Severance Children's Hospital.

Results: Twelve patients were examined. The median age of seizure onset was 1.5 months [interquartile range (IQR): 0-3] with a median age of dietary therapy initiation at 4.5 months (IQR: 3.0-9.3) and a median diet duration of 6.5 months (IQR: 2.8-13.3). The patients had various epilepsy syndromes: nine (75 %) patients had early infantile developmental and epileptic encephalopathy, two (16.7 %) had infantile epileptic spasms syndrome, and one (8.3 %) had developmental and epileptic encephalopathy. Three patients (25 %) were definite KD responders who achieved seizure freedom within the median of 2 months from KD initiation and remained seizure-free for a median of 36 months (IQR: 29.5-60.0). One patient (8.3 %) was a possible KD responder, seizure-free with KD initiation and steroid therapy while 8 were non-responders (66.7 %). The definite KD responders shared similar clinical characteristics as the rest, except that there were significantly more patients that had seizure onset at ≥ 6 months (p = 0.045) in the definite KD responder group.

Conclusion: We demonstrated dietary therapy was highly effective for some patients with STXBP1-related epileptic encephalopathy, especially those with later onset.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
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