Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Epilepsy in a mitochondrial disorder.

T Torbergsen1, E Mathiesen, J Aasly

  • 1Department of Neurology, University Hospital, Tromsö, Norway.

Journal of Neurology, Neurosurgery, and Psychiatry
|December 1, 1991
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.

Nature metabolism·2024
Same author

Associations of Body Mass Index (Maternal BMI) and Gestational Diabetes Mellitus with Neonatal and Maternal Pregnancy Outcomes in a Multicentre European Database (Diabetes and Pregnancy Vitamin D and Lifestyle Intervention for Gestational Diabetes Mellitus Prevention).

ISRN obesity·2014
Same author

Combined testing of autonomic and sensory dysfunction in patients with unilateral facial flushing and sweating during exercise.

Neurophysiologie clinique = Clinical neurophysiology·2013
Same author

Peripheral neuropathy caused by severe hypothermia.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2012
Same author

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Clinical genetics·2011
Same author

Increased urinary orosomucoid excretion predicts preeclampsia in pregnant women with pregestational type 1 diabetes.

Diabetes research and clinical practice·2010
Same journal

Global epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Diagnostic accuracy of a two-cut-off approach using the FAQ/MMSE ratio and FAQ for clinical preselection of patients for anti-amyloid therapy.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Cancer risk and mortality in patients with multiple sclerosis in Finland: a retrospective population-based cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Visuospatial working memory in Huntington's disease: behavioural and structural brain correlates.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Characteristics and outcomes in electric scooter-related traumatic brain injuries in Helsinki.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Chronological ageing and ovarian reserve in MS: insights from anti-Müllerian hormone and disability progression.

Journal of neurology, neurosurgery, and psychiatry·2026
See all related articles

Mitochondrial disease linked to a mild Complex 1 defect caused epilepsy in 22% of a large family. Symptoms varied, including myoclonus epilepsy and partial epilepsy, highlighting diverse neurological expressions.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial diseases are inherited disorders affecting cellular energy production.
  • Mitochondrial respiratory chain complex 1 (NADH-ubiquinone oxidoreductase) is crucial for ATP synthesis.

Observation:

  • A large family exhibited maternally inherited mitochondrial disease.
  • Neurological symptoms, particularly epilepsy, were prevalent among family members.

Findings:

  • A mild defect in mitochondrial respiratory chain complex 1 was identified.
  • Epilepsy affected 22% of the family; 5 members had myoclonus epilepsy, and 4 had partial epilepsy.
  • Phenotypic variability in neurological symptoms was observed across different family branches.

Related Experiment Videos

Implications:

  • This study links specific mitochondrial dysfunction (Complex 1 defect) to varied epilepsy presentations.
  • Understanding genotype-phenotype correlations in mitochondrial disorders is crucial for diagnosis and management.
  • Further research is needed to elucidate the mechanisms behind the diverse neurological manifestations.