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Results 1 - 10 of 20 for Lysosomal disease with epilepsy
  1. ... that the MFSD8 protein transports molecules across the lysosomal membrane, the specific molecules ... muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech ...
  2. ... subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and ... within the lysosomal integral membrane protein type 2 (LIMP-2) reveal ...
  3. ... Lavoie C. Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. Hum Mutat. 2013 Dec;34( ...
  4. ... individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life expectancy depends on when signs and symptoms of CLN1 disease develop and their severity; affected individuals may survive ...
  5. ... 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, ...
  6. ... Saukko P, Lahtinen U, Lehesjoki AE. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet. 2005 Feb; ...
  7. ... GRN gene have been found to cause CLN11 disease. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ...
  8. ... Saukko P, Lahtinen U, Lehesjoki AE. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet. 2005 Feb; ...
  9. ... like clumsiness. Additional signs and symptoms of CLN7 disease include muscle twitches (myoclonus), difficulty coordinating movements (ataxia), recurrent seizures (epilepsy), and speech impairment. Mental functioning and motor skills ( ...
  10. ... In addition, affected children often develop recurrent seizures (epilepsy) and vision impairment. In some cases, signs and symptoms of CLN2 disease do not appear until later in childhood, usually ...
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