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Results 1 - 10 of 12 for Progressive myoclonic epilepsy type 8
Did you mean Progressive mayoclinic epilepsy type 8?
  1. 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
  2. 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
  3. 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
  4. Unverricht-Lundborg disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... 10.1016/s0378-1119(99)00550-8. Citation on PubMed Alakurtti K, Weber E, Rinne ...
    https://medlineplus.gov/.../condition/unverricht-lundborg-disease - Genetics
  5. CSTB gene 
    ... on PubMed Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  6. 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
  7. 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
  8. CLN8 disease 
    ... seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). Individuals with the more-severe form have a ... lipofuscinosis 8 Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  9. CLN4 disease 
    ... disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  10. 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. ... which are a type of noninherited mutation. Somatic mutations occur in the ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
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