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FUKATA , Yuko

Last name: FUKATA

First name: Yuko

2022 (v1)

Publication

Metadata-only

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

van der Knoop, Marieke M Maroofian, Reza Fukata, Yuko

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, so far, only two affected individuals have been described...

Uploaded on: February 7, 2024