A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. - Padmakumar M; Jaeken J; Ramaekers V; Lagae L; Greene D; Thys C; Van Geet C; BioResource N; Stirrups K; Downes K; Turro E; Freson K (JIMD reports, 2019)