[HTML][HTML] Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
S Avazzadeh, K McDonagh, J Reilly, Y Wang… - Molecular Autism, 2019 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high
co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion
is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual
disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to
different clinical symptoms is unknown. Patient-derived cells are essential to investigate the
functional consequences of NRXN1 lesions to human neurons in different diseases …
co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion
is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual
disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to
different clinical symptoms is unknown. Patient-derived cells are essential to investigate the
functional consequences of NRXN1 lesions to human neurons in different diseases …
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