References
Brunklaus A, Zuberi SM (2014) Dravet syndrome–from epileptic encephalopathy to channelopathy. Epilepsia 55(7):979–984
Depienne C, Bouteiller D, Keren B et al (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5(2):e1000381
Marini C, Scheffer IE, Nabbout R et al (2011) The genetics of Dravet syndrome. Epilepsia 52(S2):24–29
Craig AK, de Menezes MS, Saneto RP (2012) Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects. Seizure 21(1):17–20
Castro-Gago M, Pérez-Gay L, Eirís-Puñal J (2011) Dravet syndrome and mitochondrial dysfunction. J Child Neurol 26(10):1331–1332
Nesti C, Meschini MC, Meunier B et al (2015) Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. Hum Mol Genet 24(11):3248–3256
Santambrogio P, Dusi S, Guaraldo M et al (2015) Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients. Neurobiol Dis. pii:S0969-9961(15)00098-4 (Epub ahead of print)
Gaily E, Anttonen AK, Valanne L et al (2013) Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. Epilepsia 54(9):1577–1585
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L (2015) Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis 38(1):145–156
Fernández-Vizarra E, Zeviani M (2015) Nuclear gene mutations as the cause of mitochondrial complex III deficiency. Front Genet. 6:134
Acknowledgments
This work was supported in part by grants from the Italian Ministry of Health (Ricerca Corrente). We thank Denise Cassandrini and Claudia Nesti for technical advices and Dr. Catherine J. Wrenn for expert editing.
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This study had been approved by the IRCCS Stella Maris Ethical Committee. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee and with 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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The authors declare that they have no conflict of interest.
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S. Doccini and M. C. Meschini contributed equally to this work.
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Doccini, S., Meschini, M.C., Mei, D. et al. Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome. Neurol Sci 36, 2151–2155 (2015). https://doi.org/10.1007/s10072-015-2324-9
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DOI: https://doi.org/10.1007/s10072-015-2324-9