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Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet Volume 14, numéro 4, December 2012

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Bough KJ, Rho J.M. Anticonvulsant mechanisms of the ketogenic diet. Epilepsia 2007 ; 48 : 43-58.

Hakonen AH, Heiskanen S, Juvonen V, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005 ; 77 : 430-441.

Joshi CN, Greenberg CR, Mhanni AA, Salman M.S. Ketogenic diet in Alpers-Huttenlocher syndrome. Pediatr Neurol 2009 ; 40 : 314-316.

Kossoff EH, Hartman A.L. Ketogenic diets: new advances for metabolism-based therapies. Curr Opin Neurol 2012 ; 25 : 173-178.

Pfeifer HH, Thiele E.A. Low-glycemic-index treatment: a liberalized ketogenic diet for treatment of intractable epilepsy. Neurology 2005 ; 65 : 1810-1812.

Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006 ; 129 : 1685-1692.

Uusimaa J, Hinttala R, Rantala H, et al. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia 2008 ; 49 : 1038-1045.

Visser NA, Braun KP, Leijten FS, et al. Magnesium treatment for patients with refractory status epilepticus due to POLG1 mutations. J Neurol 2011 ; 258 : 218-222.

Wolf NI, Rahman S, Schmitt B, et al. Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 2009 ; 50 : 1596-1607.