Abstract | OBJECTIVE: 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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Authors | Ju Yun Nam, Lip-Yuen Teng, Kyoun Cho, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Se Hee Kim |
Journal | Epilepsy research
(Epilepsy Res)
Vol. 186
Pg. 106993
(10 2022)
ISSN: 1872-6844 [Electronic] Netherlands |
PMID | 35998430
(Publication Type: Journal Article)
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Copyright | Copyright © 2022 Elsevier B.V. All rights reserved. |
Chemical References |
- Munc18 Proteins
- Qa-SNARE Proteins
- STXBP1 protein, human
- Steroids
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Topics |
- 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
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