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Difference between revisions of "Niehusmann 2011 Epilepsy Behav"

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Publications in the MiPMap
Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery. Epilepsy Behav 20:38-43.

Β» PMID: 21145289

Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2011) Epilepsy Behav

Abstract: Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.


Labels: MiParea: Respiration, Genetic knockout;overexpression, Patients  Pathology: Other 

Organism: Human  Tissue;cell: Skeletal muscle, Nervous system  Preparation: Intact cells, Homogenate  Enzyme: Complex I, Complex IV;cytochrome c oxidase 

Coupling state: OXPHOS 

HRR: Oxygraph-2k, O2k-Spectrophotometer 

Labels 

Correction

An OROBOROS Oxygraph-2k was used in this publication, whereas the Anton Paar/OROBOROS Oxygraph was the first-generation instrument for high-resolution respirometry, which was replaced by the Oxygraph-2k in 2002.