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Paper Details

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
1
2023
-deficient neurons, AIS, ANK2, ANK2 LoF variants, ANK2-deficient, ANK2-deficient human neurons, ANK2-deficient neurons, ANKB, Ankyrin 2, HiPSCs, NDD, autism spectrum disorders, axon, epilepsy, excitatory neurons, heterozygous LoF allele, hiPSC-derived, hiPSC-derived neuronal networks, hiPSC-derived neurons, hiPSCs, human, human-induced pluripotent stem cell-derived neurons, human-induced pluripotent stem cells, intellectual disability, neurodevelopmental disorder, neurodevelopmental syndrome, patients
Author NameAffiliation
David A KoolenDonders Institute for Brain
Stephen W SchererThe Hospital for Sick Children
Stephen W SchererUniversity of Toronto
Stephen W SchererThe Hospital for Sick Children
Stephen W SchererUniversity of Toronto
Srishti NangiaNew York Presbyterian Hospital-Weill Cornell Medical Center
Christian GilissenRadboud University Medical Center
Han G BrunnerAcademic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center
Han G BrunnerDonders Institute for Brain
Han G BrunnerMaastricht University
Han G BrunnerMaastricht University Medical Centre+
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