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Results 1 - 10 of 12 for Progressive myoclonic epilepsy type 8
Did you mean Progressive mayoclinic epilepsy type 8?
  1. Progressive myoclonic epilepsy type 1 
    ... Testing Registry: Unverricht-Lundborg syndrome Progressive myoclonic ... 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99)00550-8. Citation on PubMed Alakurtti K, Weber E, Rinne ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. Lafora progressive myoclonus epilepsy 
    ... type progressive myoclonic epilepsy Myoclonic epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type Genetic Testing ...
    https://medlineplus.gov/.../lafora-progressive-myoclonus-epilepsy - Genetics
  3. CSTB gene 
    ... also called mutations) in the CSTB gene cause progressive myoclonic epilepsy type 1, a rare inherited form of epilepsy. One ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  4. CLN8 disease 
    ... epilepsy variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 Progressive epilepsy-intellectual disability syndrome, Finnish type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  5. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... Sarappa C, Striano S. Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome. Seizure. 2004 Dec;13(8):582-6. doi: 10.1016/j.seizure.2004. ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  6. Spinal muscular atrophy 
    ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  7. MT-TS1 gene 
    The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  8. Asparagine synthetase deficiency 
    ... quadriplegia). Many affected individuals also have recurrent seizures (epilepsy). Not ... or abnormal muscle contraction (tonic). People with asparagine ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  9. Mitochondrial DNA 
    ... TS1, can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide ... lead to the specific signs and symptoms of progressive external ophthalmoplegia. More ... mutations, which are a type of noninherited mutation. Somatic mutations occur in the ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  10. SERPINI1 gene 
    ... a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy) and delayed development. More About This Health Condition ... neuroserpin inclusion bodies. J Biol Chem. 2005 Apr 8;280(14):13735-41. doi: ... of tissue-type plasminogen activator in the central nervous system. Thromb ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
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