Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for Mitochondrial disease with epilepsy
  1. POLG gene 
    ... This Health Condition MedlinePlus Genetics provides information ... called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  2. MT-TH gene 
    ... with cardiomyopathy, but without other common signs of mitochondrial disease such as neurological abnormalities. This mutation replaces the ... mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat. 2013 Sep;34(9):1260-8. ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  3. MT-TL1 gene 
    ... tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A. 2005 ... UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci. 2013 Feb 15;325(1- ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  4. MT-TK gene 
    ... gene have been identified in people with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  5. ABAT gene 
    ... infancy. Babies with this disorder have recurrent seizures (epilepsy), movement problems, and profoundly delayed development. They may ...
    https://medlineplus.gov/genetics/gene/abat - Genetics