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Action
- Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although ...
- KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth. As a result, affected infants have a lack of energy ( ...
- The SCN9A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium ...
- The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium ...
- Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results ...
- The KCNK9 gene provides instructions for making a protein called TASK3, which functions as a potassium channel. Potassium channels transport positively charged ...
- The CLCN1 gene provides instructions for making a type of protein called a chloride channel. These channels, which transport negatively charged chlorine ...
- ... by impaired social skills, communication problems, and repetitive actions. These difficulties can interfere with affected individuals' ability ... play with others, typically begin to develop.Repetitive actions in ASD can include simple actions such as ...
- ... in the SCARB2 gene have been associated with action myoclonus–renal failure (AMRF) syndrome. This rare condition ... twitching, particularly when trying to make intentional movements (action myoclonus). Another common feature of AMRF syndrome is ...
- ... thoughts, mental images, or urges to perform specific actions. While the particular obsessions vary widely, they often ... Compulsions consist of the repetitive performance of certain actions, such as checking or verifying, washing, counting, arranging, ...
