Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxia/gait abnormalities and behavioral issues. Antiseizure medications are only partially effective in controlling seizures. Secondary to the intractable epilepsy, patients are often on multiple antiseizure medications with significant accumulative neurotoxic side effects. Specifically for Dravet syndrome, the medical literature includes both laboratory and clinical research that supports the use of the ketogenic diet. In addition, a review of the children with Dravet syndrome who were treated with the ketogenic diet at our center was undertaken. Thirteen of the 20 children (65%) with Dravet syndrome treated with the ketogenic diet experienced a greater than 50% reduction in seizure frequency. The ketogenic diet is a good alternative to medication for seizure management in children with Dravet syndrome.
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http://dx.doi.org/10.1177/0883073813487599 | DOI Listing |
Int J Mol Sci
December 2024
Department of Inorganic and Organic Chemistry, Faculty of Experimental Sciences, University of Jaén, Campus of International Excellence in Agri-Food (ceiA3), 23071 Jaén, Spain.
Human lactate dehydrogenase A (LDHA) is a homotetrameric isozyme involved in the conversion of glyoxylate into oxalate in the cytosol of liver cells (hepatocytes) and partially responsible for the overproduction of oxalate in patients with the rare disease called primary hyperoxaluria (PH). Recently, LDHA inhibition has been validated as a safe therapeutic method to try to control the PH disease. Stiripentol (STP) is an approved drug used in the treatment of seizures associated with Dravet's syndrome (a severe form of epilepsy in infancy) which, in addition, has been drawing interest in recent years also for potentially treating PH, due to its LDHA inhibitory activity.
View Article and Find Full Text PDFBiomed Pharmacother
January 2025
IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, Pisa 56128, Italy.
Lafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the course of the disease and slow its progression. Recently, gliflozins, a series of SGLT2 transporter inhibitors approved for use in type 2 diabetes mellitus, heart failure and chronic kidney disease, have been proposed as possible repositioning drugs for the treatment of LD.
View Article and Find Full Text PDFClozapine is effective in treatment-resistant schizophrenia. However, clozapine has its own (well-) known side effects. We describe a case of a patient who developed epileptic seizures after starting clozapine.
View Article and Find Full Text PDFActa Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFJ Health Econ Outcomes Res
December 2024
Jazz Pharmaceuticals UK Ltd., London, UK.
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