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encephalopathy
- ... gene have been identified in people with ethylmalonic encephalopathy. This rare condition affects many parts of the ... diarrhea.Most of the mutations that cause ethylmalonic encephalopathy lead to the production of nonfunctional versions of ...
- ... to increase the risk of developing acute necrotizing encephalopathy type 1. This condition, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of ...
- ... been found to cause SCN8A-related epilepsy with encephalopathy. This condition is characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of ...
- ... STXBP1 gene have been found to cause STXBP1 encephalopathy. This condition is characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...
- ... gene are also involved in early-onset epileptic encephalopathy, a more severe condition than BFNS (described above) ... KCNQ2 gene mutations that cause early-onset epileptic encephalopathy lead to production of an abnormal KCNQ2 protein ...
- ... SERPINI1 gene have been found to cause familial encephalopathy with neuroserpin inclusion bodies (FENIB). Each of these ... Lomas DA. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase ...
- ... been found to cause a condition called KCNB1 encephalopathy. This condition is characterized by abnormal brain function (encephalopathy), recurrent seizures (epilepsy), and developmental delay.Most KCNB1 ...
- ... gene have been found to cause CHD2 myoclonic encephalopathy, a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability beginning in childhood. About half ...
- ... also cause a form of developmental and epileptic encephalopathy, which is a group of conditions characterized by ... and developmental delays. People with developmental and epileptic encephalopathy caused by CACNA1A gene variants often experience intellectual ...
- ... disorder that involves recurrent episodes of brain dysfunction (encephalopathy) and a variety of neurological problems that gradually ... These include a disorder called early infantile lethal encephalopathy and another disorder that begins in early infancy ...
