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Results 1 - 10 of 41 for "Myoclonus," "familial," 1
  1. Myoclonus-dystonia 
    ... Zibordi F, Ciano C, Ghezzi D, Garavaglia B. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Citation ...
    https://medlineplus.gov/genetics/condition/myoclonus-dystonia - Genetics
  2. SGCE gene 
    ... Zibordi F, Ciano C, Ghezzi D, Garavaglia B. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Citation ...
    https://medlineplus.gov/genetics/gene/sgce - Genetics
  3. Progressive myoclonic epilepsy type 1 
    ... can vary, even among members of the same family. Progressive myoclonus epilepsy is a rare group of conditions. Progressive myoclonic epilepsy type 1 is believed to be the most common form ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  4. TBC1D24 gene 
    ... including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These ... ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  5. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... The condition has been reported in three large families from Jordan and northern Israel and ... a protein called prickle homolog 1, whose function is unknown. Studies suggest that it ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  6. SERPINI1 gene 
    ... Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13. doi: 10.1016/S0002-9440(10)65510-1. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
  7. CSTB gene 
    ... promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119( ... epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus ... Genome Res. 2003;100(1-4):213-23. doi: 10.1159/000072857. Citation ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  8. Ataxia with oculomotor apraxia 
    ... usually begins around age 15. As in type 1, affected individuals may have chorea or myoclonus, although these movement problems persist throughout life in ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  9. Myoclonic epilepsy with ragged-red fibers 
    ... affected individuals, even among members of the same family.MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  10. Neuroblastoma 
    ... body's cells and was not inherited.About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an ...
    https://medlineplus.gov/genetics/condition/neuroblastoma - Genetics
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