Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome

Neurol Sci. 2015 Nov;36(11):2151-5. doi: 10.1007/s10072-015-2324-9. Epub 2015 Jul 14.

Authors

Stefano Doccini¹, Maria Chiara Meschini¹, Davide Mei², Renzo Guerrini², Federico Sicca^{3

4}, Filippo Maria Santorelli⁵

Affiliations

¹ Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy.
² Pediatric Neurology and Neurogenetics Unit and Laboratories, Department of Neuroscience, Pharmacology and Child Health, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
³ Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy. fsicca@fsm.unipi.it.
⁴ Clinical Neurophysiology Laboratory, IRCCS Fondazione Stella Maris, Calambrone-Pisa, Italy. fsicca@fsm.unipi.it.
⁵ Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Calambrone-Pisa, Italy. filippo3364@gmail.com.

PMID: 26169758
DOI: 10.1007/s10072-015-2324-9

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aconitate Hydratase / metabolism
Adenosine Triphosphate / metabolism*
Adolescent
Cadherins / genetics
Cells, Cultured
Child
DNA Polymerase gamma
DNA, Mitochondrial
DNA-Directed DNA Polymerase / genetics
Electron Transport / physiology*
Epilepsies, Myoclonic / genetics
Epilepsies, Myoclonic / pathology
Epilepsies, Myoclonic / physiopathology*
Female
Fibroblasts / metabolism*
Humans
Male
Mitochondria / genetics
Mitochondria / metabolism*
Mitochondrial Diseases / genetics
Mitochondrial Diseases / pathology
Mitochondrial Diseases / physiopathology*
Mutation
NAV1.1 Voltage-Gated Sodium Channel / genetics
Pilot Projects
Protocadherins

Substances

Cadherins
DNA, Mitochondrial
NAV1.1 Voltage-Gated Sodium Channel
PCDH19 protein, human
Protocadherins
SCN1A protein, human
Adenosine Triphosphate
DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human
Aconitate Hydratase