Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

Elia, Maurizio; Musumeci, S; Ferri, Raffaele; Colamaria, V.; Azan, G.; Greco, Donatella; Stefanini, Maria Cristina

doi:10.1016/0387-7604(95)00126-3

Cited by 22 publications

(11 citation statements)

References 14 publications

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“…Most frequently these patients develop generalized tonic‐clonic seizures . Only rarely epilepsia partialis continua , West‐syndrome, or infantile spasms have been reported. Although onset of Leigh‐syndrome is much more frequent in infancy or childhood, some patients have been reported in whom epilepsy started not earlier than in adulthood .…”

Section: Onset Of Epilepsy In Midsmentioning

confidence: 99%

“…In the second case, low‐amplitude polyspikes and polyspike waves were recorded. Epilepsia partialis continua was reported in patients with Leigh‐syndrome , in an 11‐year old‐girl with MELAS‐syndrome , a 17‐year‐old patient with non‐syndromic MID due to a COXI mutation , a 16‐year‐old girl carrying a tRNA(Ser) mutation , a 16‐year‐old patient carrying a POLG1 mutation , an infant carrying a thymidine‐kinase‐2 mutation , and in a number of other non‐syndromic MIDs .…”

Section: Electroencephalography In Midsmentioning

confidence: 99%

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Mitochondrial epilepsy in pediatric and adult patients

Finsterer

Zarrouk‐Mahjoub

2013

Acta Neurol Scand

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Few data are available about the difference between epilepsy in pediatric mitochondrial disorders (MIDs) and adult MIDs. This review focuses on the differences between pediatric and adult mitochondrial epilepsy with regard to seizure type, seizure frequency, and underlying MID. A literature search via Pubmed using the keywords 'mitochondrial', 'epilepsy', 'seizures', 'adult', 'pediatric', and all MID acronyms, was carried out. Frequency of mitochondrial epilepsy strongly depends on the type of MID included and is higher in pediatric compared to adult patients. In pediatric patients, mitochondrial epilepsy is more frequent due to mutations in nDNA-located than mtDNA-located genes and vice versa in adults. In pediatric patients, mitochondrial epilepsy is associated with a syndromic phenotype in half of the patients and in adults more frequently with a non-syndromic phenotype. In pediatric patients, focal seizures are more frequent than generalized seizures and vice versa in adults. Electro-clinical syndromes are more frequent in pediatric MIDs compared to adult MIDs. Differences between pediatric and adult mitochondrial epilepsy concern the onset of epilepsy, frequency of epilepsy, seizure type, type of electro-clinical syndrome, frequency of syndromic versus non-syndromic MIDs, and the outcome. To optimize management of mitochondrial epilepsy, it is essential to differentiate between early and late-onset forms.

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Section: Onset Of Epilepsy In Midsmentioning

confidence: 99%

Section: Electroencephalography In Midsmentioning

confidence: 99%

Mitochondrial epilepsy in pediatric and adult patients

Finsterer

Zarrouk‐Mahjoub

2013

Acta Neurol Scand

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“…26 It can also occur with twinkle (C10orf12) 44 and POLG 39,42 mutations. Although it has been described on occasion in LS, 53 this does not appear to be a common feature of the disorder. 7,19,20 Occipital Lobe Epilepsy Occipital lobe epilepsy is an uncommon clinical presentation, affecting 2% to 13% of those with focal epilepsies.…”

Section: Status Epilepticusmentioning

confidence: 93%

Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment

Chinnery

2015

Semin Neurol

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“…However, such a presentation has also been noted in Leigh syndrome, nonspecific electron transport chain defects and other mtDNA mutations [Elia et al, 1996]. These patients may develop concomitant encephalopathy, cognitive decline or hepatopathy, even if these features are not present at disease-onset.…”

Section: Epilepsia Partialis Continua (Epc) Myoclonus and Status Epmentioning

confidence: 95%

The neurologic manifestations of mitochondrial disease

Parikh¹

2010

Dev Disabil Res Revs

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The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost any neurological symptom can be due to mitochondrial disease, there are select symptoms that are more suggestive of a mitochondrial problem. Certain symptoms that have become sine qua non with underlying mitochondrial cytopathies can serve as diagnostic "red-flags." Here, the typical and atypical presentations of mitochondrial disease in the nervous system are reviewed, focusing on "red flag" neurological symptoms as well as associated symptoms that can occur in, but are not specific to, mitochondrial disease. The multitudes of mitochondrial syndromes are not reviewed in-depth, though a select few are discussed in some detail.

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Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

Cited by 22 publications

References 14 publications

Mitochondrial epilepsy in pediatric and adult patients

Mitochondrial epilepsy in pediatric and adult patients

Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment

The neurologic manifestations of mitochondrial disease

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