Mitochondrial Respiratory Chain Defects in Skin Fibroblasts from Patients with Dravet Syndrome

Overview

Journal Neurol Sci

Specialty Neurology

Date 2015 Jul 15

PMID 26169758

Citations 5

Authors

Stefano Doccini

Maria Chiara Meschini

Davide Mei

Renzo Guerrini

Federico Sicca

Filippo Maria Santorelli

Affiliations

Soon will be listed here.

Citing Articles

Metabolic aspects of genetic ion channel epilepsies.

Neal E, Xu W, Borges K J Neurochem. 2023; 168(12):3911-3935.

PMID: 37594756 PMC: 11591411. DOI: 10.1111/jnc.15938.

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Kwong A, Wong V, Wong S, Chu V, Koene S, Smeitink J Epilepsia Open. 2021; 6(4):685-693.

PMID: 34379890 PMC: 8633467. DOI: 10.1002/epi4.12534.

Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome.

Banerji R, Huynh C, Figueroa F, Dinday M, Baraban S, Patel M Brain Commun. 2021; 3(1):fcab004.

PMID: 33842883 PMC: 8023476. DOI: 10.1093/braincomms/fcab004.

A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models.

Perry C, Finch P, Muller-Taubenberger A, Leung K, Warren E, Damstra-Oddy J Br J Pharmacol. 2019; 177(4):912-928.

PMID: 31693171 PMC: 7024701. DOI: 10.1111/bph.14892.

Metabolic Dysfunction and Oxidative Stress in Epilepsy.

Pearson-Smith J, Patel M Int J Mol Sci. 2017; 18(11).

PMID: 29117123 PMC: 5713334. DOI: 10.3390/ijms18112365.

References

Desbats M, Lunardi G, Doimo M, Trevisson E, Salviati L . Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2014; 38(1):145-56. DOI: 10.1007/s10545-014-9749-9. View

Brunklaus A, Zuberi S . Dravet syndrome--from epileptic encephalopathy to channelopathy. Epilepsia. 2014; 55(7):979-84. DOI: 10.1111/epi.12652. View

Santambrogio P, Dusi S, Guaraldo M, Rotundo L, Broccoli V, Garavaglia B . Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. Neurobiol Dis. 2015; 81:144-53. PMC: 4642744. DOI: 10.1016/j.nbd.2015.02.030. View

Castro-Gago M, Perez-Gay L, Eiris-Punal J . Dravet syndrome and mitochondrial dysfunction. J Child Neurol. 2011; 26(10):1331-2. DOI: 10.1177/0883073811420718. View

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O . Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009; 5(2):e1000381. PMC: 2633044. DOI: 10.1371/journal.pgen.1000381. View