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Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations: a single-center single-arm retrospective
Ying-Yan Wang1, Yun-Qing Zhou1, Li-Juan Luo2
1Department of Neurology, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Insights
Ketogenic diet therapy is highly effective and safe for treating epilepsy in children with SLC2A1 mutations. Early initiation of this diet is recommended for glucose transporter type 1 deficiency syndrome.
Area of Science:
- Neurology
- Pediatric Epilepsy
- Metabolic Disorders
Background:
- Epilepsy in children can stem from genetic mutations like SLC2A1.
- Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic disorder affecting glucose transport to the brain.
- SLC2A1 mutations are a primary cause of GLUT1-DS, leading to neurological issues including epilepsy.
Purpose of the Study:
- To evaluate the efficacy and safety of ketogenic diet therapies.
- To assess the impact of ketogenic diet on seizure control in pediatric patients with SLC2A1 mutations.
- To determine the long-term outcomes of ketogenic diet treatment for epilepsy caused by SLC2A1 genetic mutations.
Main Methods:
- Retrospective study design.
- Inclusion of pediatric patients with epilepsy and confirmed SLC2A1 mutations via whole-exome sequencing.
- Analysis of seizure frequency, antiepileptic drug use, and follow-up data post-ketogenic diet initiation.
Main Results:
- Six pediatric patients with SLC2A1 mutations and epilepsy were treated with ketogenic diet for at least four months.
- All patients achieved seizure freedom within one month of initiating the ketogenic diet.
- No seizure recurrence or severe adverse events were observed during follow-up periods of up to 12 months, even after antiepileptic drug withdrawal.
Conclusions:
- Ketogenic diet therapy demonstrates significant efficacy and safety in managing epilepsy associated with SLC2A1 mutations.
- Early implementation of ketogenic diet is crucial for patients diagnosed with glucose transporter type 1 deficiency syndrome due to SLC2A1 mutations.
- The ketogenic diet offers a viable and effective treatment option for pediatric epilepsy caused by SLC2A1 genetic defects.
Background:
This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome.
Methods:
Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing. We analyzed the patients' convulsions and treatment with antiepileptic drugs. The patients were followed up at different time periods after ketogenic diet therapies.
Results:
Six patients with SLC2A1 mutations were included in this study. The patients had seizures of different types and frequencies, and they took antiepileptic drugs to relieve their symptoms. They were then treated with a ketogenic diet for at least four months. We analyzed epilepsy control rates at 1, 2, 3, 6, and 12 months after ketogenic diet treatment. All patients were seizure-free within a month of receiving the diet therapy. All patients were followed up for six months, three were followed up for 12 months after the treatment, and there was no recurrence of epilepsy during this period. After antiepileptic drug withdrawal, none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone. No severe adverse events occurred during the therapy.
Conclusions:
Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations. Therefore, patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.
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