Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy
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 enc...
Ausführliche Beschreibung
Autor*in: |
Nam, Ju Yun [verfasserIn] Teng, Lip-Yuen [verfasserIn] Cho, Kyoun [verfasserIn] Kang, Hoon-Chul [verfasserIn] Lee, Joon Soo [verfasserIn] Kim, Heung Dong [verfasserIn] Kim, Se Hee [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: Epilepsy research - Amsterdam [u.a.] : Elsevier Science, 1987, 186 |
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Übergeordnetes Werk: |
volume:186 |
DOI / URN: |
10.1016/j.eplepsyres.2022.106993 |
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Katalog-ID: |
ELV008499233 |
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520 | |a 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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650 | 4 | |a Ketogenic diet | |
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700 | 1 | |a Teng, Lip-Yuen |e verfasserin |4 aut | |
700 | 1 | |a Cho, Kyoun |e verfasserin |4 aut | |
700 | 1 | |a Kang, Hoon-Chul |e verfasserin |4 aut | |
700 | 1 | |a Lee, Joon Soo |e verfasserin |4 aut | |
700 | 1 | |a Kim, Heung Dong |e verfasserin |4 aut | |
700 | 1 | |a Kim, Se Hee |e verfasserin |4 aut | |
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10.1016/j.eplepsyres.2022.106993 doi (DE-627)ELV008499233 (ELSEVIER)S0920-1211(22)00144-9 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Nam, Ju Yun verfasserin aut Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Epilepsy Ketogenic diet Pediatric STXBP1 Teng, Lip-Yuen verfasserin aut Cho, Kyoun verfasserin aut Kang, Hoon-Chul verfasserin aut Lee, Joon Soo verfasserin aut Kim, Heung Dong verfasserin aut Kim, Se Hee verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 186 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:186 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 186 |
spelling |
10.1016/j.eplepsyres.2022.106993 doi (DE-627)ELV008499233 (ELSEVIER)S0920-1211(22)00144-9 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Nam, Ju Yun verfasserin aut Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Epilepsy Ketogenic diet Pediatric STXBP1 Teng, Lip-Yuen verfasserin aut Cho, Kyoun verfasserin aut Kang, Hoon-Chul verfasserin aut Lee, Joon Soo verfasserin aut Kim, Heung Dong verfasserin aut Kim, Se Hee verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 186 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:186 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 186 |
allfields_unstemmed |
10.1016/j.eplepsyres.2022.106993 doi (DE-627)ELV008499233 (ELSEVIER)S0920-1211(22)00144-9 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Nam, Ju Yun verfasserin aut Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Epilepsy Ketogenic diet Pediatric STXBP1 Teng, Lip-Yuen verfasserin aut Cho, Kyoun verfasserin aut Kang, Hoon-Chul verfasserin aut Lee, Joon Soo verfasserin aut Kim, Heung Dong verfasserin aut Kim, Se Hee verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 186 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:186 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 186 |
allfieldsGer |
10.1016/j.eplepsyres.2022.106993 doi (DE-627)ELV008499233 (ELSEVIER)S0920-1211(22)00144-9 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Nam, Ju Yun verfasserin aut Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Epilepsy Ketogenic diet Pediatric STXBP1 Teng, Lip-Yuen verfasserin aut Cho, Kyoun verfasserin aut Kang, Hoon-Chul verfasserin aut Lee, Joon Soo verfasserin aut Kim, Heung Dong verfasserin aut Kim, Se Hee verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 186 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:186 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 186 |
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10.1016/j.eplepsyres.2022.106993 doi (DE-627)ELV008499233 (ELSEVIER)S0920-1211(22)00144-9 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Nam, Ju Yun verfasserin aut Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy 2022 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Epilepsy Ketogenic diet Pediatric STXBP1 Teng, Lip-Yuen verfasserin aut Cho, Kyoun verfasserin aut Kang, Hoon-Chul verfasserin aut Lee, Joon Soo verfasserin aut Kim, Heung Dong verfasserin aut Kim, Se Hee verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 186 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:186 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 186 |
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610 DE-600 44.90 bkl Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy Epilepsy Ketogenic diet Pediatric STXBP1 |
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Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy |
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Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy |
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Nam, Ju Yun |
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Nam, Ju Yun Teng, Lip-Yuen Cho, Kyoun Kang, Hoon-Chul Lee, Joon Soo Kim, Heung Dong Kim, Se Hee |
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10.1016/j.eplepsyres.2022.106993 |
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effects of the ketogenic diet therapy in patients with stxbp1-related encephalopathy |
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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. |
abstractGer |
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. |
abstract_unstemmed |
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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title_short |
Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy |
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