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    • Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy 

      Muona, Mikko; Fukata, Yuko; Anttonen, Anna-Kaisa; Laari, Anni; Palotie, Aarno; Pihko, Helena; Lönnqvist, Tuula; Valanne, Leena; Somer, Mirja; Fukata, Masaki; Lehesjoki, Anna-Elina (Wolters Kluwer, 2016)
      Objective: To identify the molecular genetic basis of a syndrome characterized by rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability. Methods: We performed exome sequencing in the proband ...