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 - 10 of 11 for Progressive myoclonic epilepsy type 3
Did you mean Progressive mayoclinic epilepsy type 3?
  1. Progressive myoclonic epilepsy type 1 
    ... repeat. Normally, this sequence is repeated two or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ...
    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. 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. Action myoclonus–renal failure syndrome 
    ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ... subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and ... integral membrane protein type 2 (LIMP-2) reveal the nature of binding ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  5. Familial encephalopathy with neuroserpin inclusion bodies 
    ... Lawrence DA. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. Thromb Haemost. 2004 Mar;91(3):457-64. doi: 10.1160/TH03-12-0766. Citation on PubMed
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  6. Cerebral folate transport deficiency 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  7. CLN8 disease 
    ... 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
  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. Beta-propeller protein-associated neurodegeneration 
    ... disorder that damages the nervous system and is progressive, which means that ... (epilepsy) beginning in infancy or early childhood. Several different ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  10. 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
previous · 1 · 2 · next