A novel mutation in ryanodine receptor 2 (ryr2) genes at c.12670g>t associated with focal epilepsy in a 3-year-old child

HIGHLIGHTS

  • who: Junji Hu and collaborators from the (UNIVERSITY) have published the paper: A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child, in the Journal: (JOURNAL)

SUMMARY

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ACRONYMS

LAY DEFINITIONS

  • genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
  • ryanodine: A methylpyrrole-carboxylate from RYANIA that disrupts the RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL . . .

     

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