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Progressive myoclonic epilepsy type 7
Did you mean Progressive mayoclinic epilepsy type 7?
- ... type progressive myoclonic epilepsy Myoclonic epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type Genetic Testing ...
- ... 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. ...
- ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ...
- Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized ...
- ... genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet. 2006 Sep;43(9):e48. ... glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. ... J Biol Chem. 2008 Feb 15;283(7):4069-76. doi: 10.1074/jbc.M708712200. Epub ...
- ... mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet. 2008 Jul ...
- ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
- ... variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 Progressive epilepsy-intellectual disability syndrome, Finnish type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... disorder that damages the nervous system and is progressive, which means that ... (epilepsy) beginning in infancy or early childhood. Several different ...
- ... disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with ... Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an ... Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub ...