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Biallelic
ADAM22
pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Peer-reviewed
Open access
DOI
10.1093/brain/awac116
van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; ...
Brain
2022
Dysfunctional
ADAM22
implicated in progressive encephalopathy with cortical atrophy and epilepsy
Peer-reviewed
Open access
DOI
10.1212/NGX.0000000000000046
Muona, Mikko; Fukata, Yuko; Anttonen, Anna-Kaisa; Laari, Anni; Palotie, Aarno; Pihko, Helena; Lönnqv...
Neurology : Genetics
2016
Biallelic
ADAM22
pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Peer-reviewed
Open access
DOI
10.1093/brain/awac116
2022
Dysfunctional
ADAM22
implicated in progressive encephalopathy with cortical atrophy and epilepsy
Peer-reviewed
Open access
DOI
10.1212/NGX.0000000000000046
2016
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