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BACKGROUND Loss-of-function variants in SRRM2, encoding the spliceosomal protein SRm300 involved in pre-messenger RNA splicing, have recently been associated with a neurodevelopmental disorder. Although seizures have been reported in some affected individuals, the electroclinical phenotype of SRRM2-related epilepsy has...
Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.
An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...
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