Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
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DOI: 10.1093/brain/awac116
Abstract: Abstract Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However,… read more here.
Keywords: pathogenic variants; encephalopathy; adam22 pathogenic; epilepsy ... See more keywords