Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
Carla LintasAngelo FacchianoAlessia AzzaràIlaria CassanoClaudio TabolacciCinzia GalassoFiorella GurrieriPublished in: Genes (2023)
We discuss our variant in relation to previously reported variants and with the objective of delineating possible genotype-phenotype correlations.