Objectives The purpose of this study was to characterize patients who were diagnosed with glucose transporter protein 1 deficiency syndrome (Glut1D), and also to assess the efficacy of ketogenic diet (KD) therapy on seizure control, cognitive functions, and other neurological disorders. Patients and Methods We studied six unrelated patients with the classical phenotype of Glut1D, focusing on clinical and laboratory features, the KD therapy and outcome over the 25-month follow-up period. Results Five patients became seizure-free with the onset of ketosis, and anticonvulsants were discontinued. Other neurological features such as ataxia, spasticity, and dystonia showed a less striking improvement than seizure control. There was no significant change in the intelligence quotient (IQ) level or microcephaly. In all patients, alertness, concentration, motivation, and activity resulted in a moderate improvement of variable degree. The early-onset adverse effects of KD were observed in five patients. The KD regimen failed in one patient, therefore, his diet was changed with an alternative to KD. Conclusions Treatment with KD resulted in a marked improvement in seizures and cognitive functions but its effect appeared to be less striking on the other neurological disorders of the patients. When the classic KD is not tolerated, an alternative to KD may be helpful.

:Myoclonic status in non-progressive encephalopathy (MSNPE) is characterized by the recurrence of long-lasting atypical status epilepticus associated with attention impairment and continuous polymorphous jerks, mixed with other complex abnormal movements, in infants suffering from a non-progressive encephalopathy. The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epileptic encephalopathies.

PURPOSE:In this study we assess the efficacy and tolerability of the KD in patients with MSNPE.

METHODS:Between March 1, 1980 and August 31, 2013, 99 patients who met the diagnostic criteria of MSNPE were seen (58 patients in Verona and 41 patients in Buenos Aires). Six of these 99 patients were placed on the KD using the Hopkins protocol and followed for a minimum period of 24 months.

RESULTS:Twelve months after initiating the diet, three patients had a 75%-99% decrease in seizures, two had a 50%-74% decrease in seizures, and the remaining child had a less than 50% seizure reduction. In five patients with a seizure reduction of more than 50%, the myoclonic status epilepticus disappeared within 6 months after starting the diet. All patients had very good tolerability and no adverse events were identified. In most of the patients AEDs were reduced.

CONCLUSION:The KD is a promising therapy for MSNPE, with most of our patients showing a more than 50% seizure reduction. In patients that responded well to the diet cognitive performance and quality of life also improved.

OBJECTIVE:To document the long-term outcome of the 83 children with difficult-to-control seizures who were enrolled prospectively in a study of the efficacy of the ketogenic diet and who had remained on the diet for 1 year.

METHODS:A total of 150 consecutive children were entered prospectively into a study of the ketogenic diet's efficacy and tolerability. Three to 6 years after diet initiation, all 150 families were sent a survey inquiring about their child's current health status, seizure frequency, and current anticonvulsant medications. They were asked about their experience with the diet and reasons for discontinuation. Several telephone attempts were made to contact those who did not respond to the written questionnaire. Responses were entered in an Access database and analyzed.

RESULTS:In 1999, 3 to 6 years after initiating the diet, 107 of 150 families responded to a questionnaire. Thirty-five additional families were interviewed by telephone, 4 were lost to follow-up, and 4 children had died, unrelated to the diet. Of the original 150 patient cohort, 20 (13%) were seizure-free and an additional 21 (14%) had a 90% to 99% decrease in their seizures. Twenty-nine were free of medications, and 28 were on only 1 medication; 15 remained on the diet. There were no known cardiac complications.

CONCLUSION:Three to 6 years after initiation, the ketogenic diet had proven to be effective in the control of difficult-to-control seizures in children. The diet often allows decrease or discontinuation of medication. It is more effective than many of the newer anticonvulsants and is well-tolerated when it is effective.

Although the ketogenic diet has been used in the therapy for epilepsy for more than 50 years, there are few studies concerned with the effects of this diet on the central nervous system. Recent attempts to unravel the biochemical effects of the ketogenic diet on the brain seem to be a fruitful approach to understanding how the ketogenic diet causes anticonvulsant effects. Another exciting approach is the development of animal models in which various effects of the diet can be correlated with changes in seizure protection. It would be useful to determine whether the diet produces any neurophysiological effects that could account for some, or all, of its antiseizure properties. Finally, the efficacy of the diet is impressive. It is likely that the ketogenic diet will never be of major therapeutic importance because of the expense and commitment required of the patient and the family. Nevertheless, it appears obvious that continued study of a therapy which seems to work so well will give us some valuable clues as to the mechanism of seizures and their control. Further investigations into the mechanism of action of the ketogenic diet should be encouraged.

OBJECTIVE:The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) on the clinical and electroencephalographic (EEG) features of Lennox-Gastaut syndrome (LGS) and explore the relationships between EEG changes and clinical efficacy.

METHODS:We retrospectively studied 47 patients with LGS who accepted KD therapy between May 2011 and May 2015. Clinical efficacy and EEG features such as background activity, abnormal interictal epileptic discharges (IEDs) and the discharge location were evaluated prior to and at 3 and 6 months after therapy. Responders were defined as ≥50% seizure reduction.

RESULTS:At 3 months of treatment, 23 patients (48.9%) had≥50% seizure reduction. Seven patients (14.9%) discontinued treatment between 3 and 6 months because of lack of efficacy or inability to adhere to the diet. At 6 months of treatment, 4 patients (10%) were seizure free, 5 (12.5%) had ≥90% seizure reduction, 12 (30%) had a reduction of 50-89%, and19 (47.5%) had<50% reduction. Patients with improved EEG background and reduced IEDs had an improved seizure reduction rate compared with patients without change in EEG background or IEDs (p<0.01).

CONCLUSIONS:The results show that the KD is effective in LGS. It can control seizures and improve EEG abnormalities. Early improvement in the EEG background and a reduction in IEDs may be predictors of a patient's response to diet.

PURPOSE:GLUT-1 deficiency syndrome (GLUT1DS) is a neurologic disorder manifesting as epilepsy, abnormal movements, and cognitive delay. The currently accepted treatment of choice is the classic 4:1 ratio ketogenic diet.

METHODS:A 2-page survey was distributed to all attendees of a family-centered conference for GLUT1DS in July 2015. The surveys were completed by parents, collected anonymously, and information analyzed in a database.

RESULTS:Surveys were received from 92 families, of which 90 (98%) had been treated with dietary therapies. Diets used were extremely varied: 59 were treated with the classic ketogenic diet (KD), 29 with the Modified Atkins Diet (MAD), 4 with the Medium-chain Triglyceride (MCT) Diet and 2 with the low glycemic index treatment. The mean diet duration was 5.5 years (range: 1 month-20 years). Of those with seizures, 95% of the children had>50% seizure reduction and 80% had>90% seizure reduction. Children who were seizure-free were currently younger on average (8.2 vs. 11.6 years, p=0.01) and slightly younger at GLUT1DS diagnosis (3.8 vs. 5.3 years, p=0.05). There was an equal percentage of children seizure-free receiving the KD/MCT Diets compared to the MAD/Low Glycemic Index Treatment (74% vs. 63%, p=0.30). The majority (64%) were not receiving anticonvulsants.

CONCLUSION:This represents the largest series of KD experience in children with GLUT1DS. Nearly all patients surveyed were on dietary therapies for long durations with reported excellent seizure control, often without anticonvulsant drugs. Several different ketogenic diets were utilized with similar efficacy. Early diagnosis and treatment were correlated with success.