ObjiectiveTo explore the efficacy and safety of ketogenic diet therapy (KDT) in the rapidly progressive stage of childhood developmental epileptic encephalopathy Dravet syndrome (DS). Methods The clinical data of all patients who added KDT in the Children’s Hospital of Fudan University from 2011 to 2022 were retrospectively collected, and the age of <6 years was used as the criterion for the rapid progression of the disease. The clinica data, genotype and the efficacy of KDT were analyzed in DS patients who met the criteria. Results A total of 32 patients met the criteria for rapid disease progress, including 22 males and 10 females. The age at onset was (5.69±2.10) months. All patients had multiple seizure phenotypes and monthly seizures despite reasonable Antiseizure medications treatment. After 3, 6, 12, and ≥24 months, 93.8% (30/32), 87.5% (28/32), 53.1% (17/32), 34.4% (11/32) remained on the KDT, while 76.7% (23/30), 75.0% (21/28), 70.6% (12/17), 54.5% (6/11) showed >50% reduction in seizure. Status epileptius (SE) was reduced by 100% at 3 months, 71.0% at 6 months, 86.0% at 12 months. After 12 months, 14 patients experienced efficacy degradation. After 3 months, the EEG background rhythm showed improvement in 75.0% patients, interictal epileptic discharges was decreased in 54.5% patients and cognitive function was improved in 78.6% patients. At the initial stage of KDT, 62.5% (20/32) patients had transisent adverse reactions, including diarrhea, vomiting, fatigue, lethargy, hypoglycemia, and metabolic acidosis, but no mid- and long-term adverse reactions were found. ConclusionKDT is an efficective and safe treatment for DS. KDT can effectively control seizures, reduce the incidence of Status SE and shorten the duration of SE. With the prolongation of the KDT course, some patients experienced a degraded effect. KDT can improve abnormal EEG and cognitive function in DS patients. Pharmoco-resistant DS patients are suggested to receive KDT in the early stage of disease progression.
ObjectiveKetogenic diet (KD) has shown promising efficacy in the treatment of super-refractory status epilepticus (SRSE); however, its adverse effects have not been systematically evaluated. This study aimed to analyze the safety profile of adjunctive KD therapy for SRSE and explore potential risk factors. MethodsProspective data from 13 SRSE patients (3 adolescents, 10 adults; mean age 34.6±18.4 years) at Xuanwu Hospital, Capital Medical University (July 2020–December 2024) who received KD adjunctive therapy after failing conventional treatments were collected. Adverse reactions were observed, and a systematic literature review (up to March 2025) was conducted for meta-analysis. ResultsIn the single-center cohort of 13 patients, common adverse events included gastrointestinal intolerance (53.8%), hematologic and metabolic abnormalities such as thrombocytosis (84.6%), hyperammonemia (76.9%), dyslipidemia (69.2%), and hypocalcemia (69.2%), as well as nutritional deficits including hypoalbuminemia (61.5%), anemia (53.8%), and transient weight loss (61.5%). Most adverse events were transient and reversible with timely adjustments to the KD regimen. The meta-analysis (25 studies, 251 cases; mean age 16.1±19.0 years) revealed a spectrum of major adverse events, including gastrointestinal intolerance (26.7%), hypoglycemia (19.1%), acidosis (17.5%), and hyperlipidemia (12.0%). ConclusionsThe ketogenic diet as adjunctive therapy for super-refractory status epilepticus demonstrates a manageable safety profile. Reported adverse events are primarily confined to gastrointestinal intolerance, metabolic derangements, and nutritional deficits, with notable occurrences of thrombocytosis and hyperammonemia requiring timely clinical management. This study provides critical evidence-based support for KD implementation in SRSE treatment protocols.
ObjectiveTo explore the efficacy of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation. Method A retrospective analysis was conducted on patients with developmental and epileptic encephalopathy admitted to Guangdong Sanjiu Brain Hospital from March 2016 to June 2020. Patients with positive PIGA gene mutations were selected, and their clinical characteristics and treatment effects were analyzed. ResultA total of 6 epilepsy patients with positive PIGA gene mutations were collected, all of whom were male. 5 cases were heterozygous mutations originating from the mother, and 1 case was a new mutation. All 6 patients were accompanied by varying degrees of psychomotor developmental delay, various types of epileptic seizures, multifocal discharge on EEG, and varying degrees of brain hypoplasia indicated by cranial MRI. All 6 patients met the criteria for drug-resistant epilepsy and were recommended to undergo ketogenic diet treatment, but three patients were discontinued in the early stages. Among them, Case 3 experienced hyperlipidemia on the fifth day of ketogenic diet and was discontinued, while Case 5 experienced transient hypoglycemia on the second day and the family refused to use it. Case 6: After one week of ketogenic diet, the family members voluntarily stopped using it. Only three patients adhered to a long-term ketogenic diet for more than 2 years. The efficacy of ketogenic diet treatment in cases 1 and 4 was very significant, reaching a seizure free state. Case 2 showed a 50% reduction in seizure frequency after ketogenic diet treatment. Case 4 developed hyperlipidemia after two years of ketogenic diet, and after discontinuing the ketogenic diet for about two months, the blood lipids returned to normal. Comparing patients in the ketogenic group with those in the non ketogenic group, it was found that the ketogenic group had a clear therapeutic effect after treatment. Among them, two patients had no seizures for more than a year and showed significant progress in development compared to before. Two years after ketogenic diet treatment, the EEG showed a significant decrease or disappearance of epileptic discharge compared to before. ConclusionPatients with developmental latency caused by PIGA gene mutations have an early only age, diverse types of sizes, varying degrees of psychomotor developmental delay, and some are compatible by von as possible.
ObjectiveTo explore the effect of Ketogenic diet (KD) in patients with Dravet syndrome (DS).MethodsThe seizures, electroencephalogram (EEG) and cognitive function of 26 DS patients receiving treatment of KD from June 2015 to October 2019 in the Epilepsy Centre of Guangdong 999 Brain Hospital were analyzed retrospectively. Modified Johns Hopkins protocol was used to initiate KD, blood glucose and urinary ketone bodies were monitored in the patients. The effect was evaluated by Engel outcome scale. And the EEG, cognition, language and motor function of the patients were assessed.Results26 DS patients (20 boys, 6 girls) received treatment of KD more than 4 weeks, the seizure of epilepsy were reduced above 50% in 15 patients (57.7%), 2 patients were seizure free. Among them, the effcet of KD can be observed in 7 patients within one week and 3 patients within two weeks, accounting for 66.7% (10/15). 26 cases (100%), 24 cases (92.3%), 20 cases (76.9%), 11 cases (42.3%) were reserved in 4, 12, 24, 28 weeks respectively. 26 patients achieved Engel Ⅰ ,Ⅱ,Ⅲ,Ⅳgrade effect, accounting for 38.5% (10/25), 54.2% (13/23), 65.0% (12/19), 81.8% (9/11) respectively according to Engel scale. The back ground rhythm of EEG showed obvious improvement in 14 patients wthin 16 patients who revieved EEG after KD. 17 patients assessed cognitive, language and motor function after KD, cognitive function was improved in 10 patients, language was enhanced in 11 patients, motor function of 8 patients was enhanced. The main adverse reactions of KD in the treatment process were mainly gastrointestinal symptoms and metabolic disorders.ConclusionKD treatment in DS has many advantages, such as fast acting, being effective in more than half of the DS patients and tolerable adverse reactions. Cognitive, language and motor function were improved in some patients. Drug resistant DS patients are suggested to receive KD treatment early.
ObjectiveTo analyze the efficacy of ketogenic diet (KD) in the treatment of epilepsy syndrome associated with Electrical status epilepticus during sleep (ESES) and the changes of electroencephalogram (EEG). MethodsThe clinical data of 58 children with ESES-related epilepsy syndrome and cognitive impairment admitted to the outpatient and inpatient department of Xuzhou Children’s Hospital from March 2020 to June 2022 were collected. They were divided into observation group (group A) and control group (group B) by random number table method, with 29 cases in each group. On the basis of not changing the original anti-seizure drugs, group A was treated with ketogenic diet, and group B was treated with hormone. The clinical efficacy, cognitive function and Spike-wave index (SWI) of children with ESES-related epilepsy syndrome were observed before and 3 and 6 months after ketogenic diet and hormone treatment. Results The total clinical effective rate and control rate of group A after 3 months of treatment; The total effective rate and significant efficiency of EEG and the verbal quotient, operation quotient and total intelligence quotient of Wechsler Intelligence Scale for children were significantly lower than those of group B, and the differences were statistically significant (P<0.05). However, the total clinical effective rate and control rate of group A after 6 months of treatment; The total effective rate and significant efficiency of electroencephalogram and the verbal quotient, operation quotient and total intelligence quotient measured by Wechsler Intelligence Scale for children were similar to those of group B, and the difference was not statistically significant (P>0.05). There were no cases of EEG SWI and recurrent clinical symptoms in group A during the follow-up period; In group B, the recurrence rate of EEG SWI was 55.2%, and the recurrence rate of clinical symptoms was 37.9% after 6 months of treatment. There were no serious adverse reactions in the two groups during the treatment period. In group A, about 27.6% (8 cases) of the children had gastrointestinal symptoms, but they were mild and quickly relieved, and no serious adverse reactions occurred in the maintenance period. However, 89.7% (26 cases) of the children in group B showed different degrees of weight gain, and 69% (20 cases) of them showed kexing features such as full moon face and buffalo back. ConclusionsKetogenic diet can improve the curative effect and EEG changes of children with ESES related epilepsy syndrome, and improve their cognition. Compared with hormone pulse therapy, the recurrence rate of ESES related epilepsy syndrome in the treatment of ketogenic diet is lower, and the incidence of adverse reactions is relatively mild and low.
ObjectiveAccording to the diagnosis and treatment analysis of 5 children with Febrile infection-related epilepsy syndrome (FIRES) and literature review, to explore the therapeutic effect of Ketogenic diet (KD).MethodsA retrospective analysis of the clinical status of 5 children with KD treatment of FIRES admitted to the Department of Pediatric Neurology, West China Second Hospital of Sichuan University from August 2016 to September 2019, combined with literature data, summarized their disease characteristics, prognosis and KD treatment effects.ResultsThe 5 cases of FIRES children were (5.8±2.0) years old and had a male to female ratio of 2∶3. They were all induced by fever followed by a status epilepticus that was difficult to control with drugs. The interval between fever and first seizure was 4 to 7 days, and the prodromal symptoms were higher respiratory tract infections, dizziness, vomiting, fatigue, listlessness, loss of appetite, etc., convulsions manifested as focal or focal secondary systemic or general seizures, EEG showed slowing background rhythm, changes in multifocal epileptic discharge, early course of disease The cranial imaging examination was basically normal. As the course of the disease progressed, changes in brain atrophy gradually appeared, and abnormal signal shadows were seen in the forehead, parietal, occipital lobe, and periventricular. A variety of anti-epileptic drugs, hormones, gamma globulin, plasma exchange and other treatments have poor therapeutic effects and severe cognitive impairment. The KD treatment started to take effect within 2 weeks, and the convulsions were reduced. One case was completely controlled, and the cognitive function basically returned to normal with only mild learning disabilities; the convulsions were reduced by more than 50% in 2 cases, leaving mild to moderate cognitive impairment, The other 2 cases had poor long-term treatment effects, left intractable seizures and severe mental retardation.ConclusionFIRES is a serious epileptic encephalopathy, most of which leave severe cognitive impairment and refractory seizures. Drug therapy and prognosis are poor. KD treatment is beneficial to control seizures in children with FIRES in the acute stage.
The correlation between gut microbes and epilepsy is a hot research topic. This review aims to summarize the effects of Ketogenic diet (KD) on gut microbes and the preclinical and clinical progress of the use of Fecal microbiota transplants (FMT) and Probiotics in the intervention of epilepsy to provide clinical reference. Gut microbes mediates the antiepileptic effect of KD. Many studies have found that bactericides decreased in epileptic patients, and KD can increase bactericides abundance, which may be one of its effective mechanisms. Both FMT and probiotics showed antiepileptic effects on epileptic model mice with different pathogenesis, suggesting that gut microbes is an important target for epilepsy treatment. Preliminary clinical studies of small samples suggest that the use of probiotics can effectively treat refractory epilepsy and autoimmune-associated epilepsy, and can improve comorbidities. No serious and long-term side effects of probiotics have been found in epileptic patients. In the future, more high-quality studies are needed to further clarify its efficacy and mechanisms, which could lead to new strategies for epilepsy treatment and refresh our understanding of the causes of epilepsy.
Objective Compare and analyze the value of β-hydroxybutyrate from two kinds of blood ketone instruments (Optium Xceed blood ketone body instrument from American Abbott laboratories and TBS-1 blood ketone body instrument from Beijing Yicheng company), and provide instructions for clinical applications. Methods Select 7 children patients with epilepsy which have a response to ketogenic diet. The two kinds of blood ketone instruments were used to test blood ketone value of whole blood synchronously in five different periods, and compare the 70 results. Results The measuring results obtained from these two kinds of blood ketone body instruments have statistical difference significantly. The value acquired from TBS-1 blood ketone body instrument is lower than that from Optium Xceed blood ketone body instrument. Measurements using a paired t test, the value of t=12.14, P<0.01. The results from two kinds of blood ketone body instruments are statistically significant. Conclusion The values from 2 kinds of blood ketone instruments are different, which would influence the clinical judgment. At present, the key problem is that there is lack of special blood ketone measure technology for patients with ketogenic diet. How to improve the measure accuracy of high-level blood ketone value remains the future work.
Objective To explore the efficacy and safety of the ketogenic diet (KD) in the treatment of genetic developmental and epileptic encephalopathy (DEE). Methods Clinical data from 42 children with genetically confirmed refractory epileptic encephalopathy treated in the Department of Neurology, Jinan Children’s Hospital, between January 2021 and October 2023 were retrospectively analyzed. A classic KD protocol was implemented, and outcomes including seizure frequency, electroencephalogram (EEG) improvement, and adverse reactions were observed at 3, 6, and 12 months post-treatment. Results Among the 42 children, the seizure-free rates at 3, 6, and 12 months of KD treatment were 16.7%, 16.7%, and 14.3%, respectively, while the effective seizure control rates were 69.0%, 52.4%, and 35.7%. At 3 months, comparison of baseline characteristics between the effective and ineffective groups showed no statistically significant differences in gender (P=0.095), age at onset (P=0.648), age at KD initiation(P=0.768), disease duration before KD (P=0.519), presence of abnormal brain MRI findings (P=0.226), epilepsy syndrome classification(P=0.344), or ion channel gene involvement (P=0.066). EEG improvement rates at 6 and 12 months were 54.2% (24 cases) and 42.8% (14 cases), respectively. Retention rates for KD at 3, 6, and 12 months were 100.0%, 71.4%, and 42.8%. Adverse reactions occurred in 7 patients (16.7%), primarily gastrointestinal symptoms (vomiting, constipation, diarrhea; 6 cases) and elevated uric acid (1 case), with no severe adverse events reported. Conclusion KD is an effective treatment for genetic DEE with favorable short-term safety, though long-term adherence requires attention.
ObjectiveTo investigate the effect of medical counseling games on ketogenic diet therapy for drug-resistant epilepsy children. MethodsA total of 98 children with drug-resistant epilepsy admitted to the neurology ward of Shenzhen Children's Hospital from January 2023 to June 2024 who were treated with ketogenic diet for the first time were selected as the study objects by random number table method, and were divided into observation group (n=49) and control group (n=49). The control group received the traditional multidisciplinary team health education mode, while the observation group received the ketogenic diet treatment based on the multidisciplinary team health education mode and participated in the customized medical counseling games intervention. The time of children reaching ketosis, the knowledge level of ketogenic diet caregivers and the retention rate of children on ketogenic diet were compared between the two groups. ResultsThe time of ketosis in observation group was earlier than that in control group (P<0.05). The knowledge level of the main caregivers of ketogenic diet and the retention rate of children with ketogenic diet at 3 months and 6 months in observation group were higher than those in control group (P<0.05). ConclusionThe use of medical counseling games in the ketogenic diet for medically refractory epilepsy is an effective therapeutic strategy that facilitates the early attainment of ketosis in children with medically refractory epilepsy, improves the knowledge of caregivers on the ketogenic diet, improves retention of children on the ketogenic diet, and serves to optimize the effectiveness of clinical outcomes, which may contribute to the quality of life of children with medically refractory epilepsy.