Five de novo heterozygous SRCAP variants are identified in five patients with DEE, and six biallelic variants are identified in six patients with focal epilepsy.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #SRCAP #denovovariants #DEE #geneticdependentquantity #genotypephenotypecorrelations

We show that during neuronal differentiation of N2A, H2A.Z is initially removed but later reincorporated. In SRCAP knockdown cells, this reincorporation is impaired, highlighting SRCAP’s essential role in depositing H2A.Z during neurodevelopment. #SRCAP #Neurodevelopment #FloatingHarborSyndrome