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

Abstract

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.

• 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)
• Copyright: Copyright © 2022 Elsevier B.V. All rights reserved.

Chemical References

• Munc18 Proteins
• Qa-SNARE Proteins
• STXBP1 protein, human
• Steroids

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