| Title : MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy - Morsy_2026_Am.J.Hum.Genet__ |
| Author(s) : Morsy H , Kim H , Jang G , Zaki MS , Severino M , Abdelrazek IM , Hussien H , Self E , Albaradie RS , Bakur K , Firoozfar Z , Efthymiou S , Noureldeen MM , Nabil A , Alvi JR , Molavi F , Alavi S , Alibakhshi R , Topcu V , Mancilar H , Uctepe E , Yesilyurt A , Aldhalaan H , Showki Tous ES , Alhaddad B , Elbendary HM , Scardamaglia A , Murphy D , Yepez VA , Gagneur J , Omar TI , Abd Elmaksoud M , Vandrovocova J , Abdalla E , Reilly MM , Sultan T , Alkuraya FS , Gleeson JG , Um JW , Houlden H , Ko J , Maroofian R |
| Ref : American Journal of Human Genetics , : , 2026 |
| Abstract : |
| PubMedSearch : Morsy_2026_Am.J.Hum.Genet__ |
| PubMedID: 41570816 |
| Title : MDGAs perform activity-dependent synapse type-specific suppression via distinct extracellular mechanisms - Kim_2024_Proc.Natl.Acad.Sci.U.S.A_121_e2322978121 |
| Author(s) : Kim S , Jang G , Kim H , Lim D , Han KA , Um JW , Ko J |
| Ref : Proc Natl Acad Sci U S A , 121 :e2322978121 , 2024 |
| Abstract : |
| PubMedSearch : Kim_2024_Proc.Natl.Acad.Sci.U.S.A_121_e2322978121 |
| PubMedID: 38900791 |
| Title : Impaired formation of high-order gephyrin oligomers underlies gephyrin dysfunction-associated pathologies - Kim_2021_iScience_24_102037 |
| Author(s) : Kim S , Kang M , Park D , Lee AR , Betz H , Ko J , Chang I , Um JW |
| Ref : iScience , 24 :102037 , 2021 |
| Abstract : |
| PubMedSearch : Kim_2021_iScience_24_102037 |
| PubMedID: 33532714 |
| Title : Structural Insights into Modulation of Neurexin-Neuroligin Trans-synaptic Adhesion by MDGA1\/Neuroligin-2 Complex - Kim_2017_Neuron_94_1121 |
| Author(s) : Kim JA , Kim D , Won SY , Han KA , Park D , Cho E , Yun N , An HJ , Um JW , Kim E , Lee JO , Ko J , Kim HM |
| Ref : Neuron , 94 :1121 , 2017 |
| Abstract : |
| PubMedSearch : Kim_2017_Neuron_94_1121 |
| PubMedID: 28641111 |
| Gene_locus related to this paper: human-NLGN2 |