Gutiérrez-Delicado, E.García Fernández, MartaOrtiz Cabrera, N. V.Soto Insuga, V.Justel Rodríguez, M.Duat-Rodríguez, A.Caicoya, A.G.Álvarez-Linera Prado, J.Solís Muñiz, I.Pçerez Jiménez, M. A.2025-08-282025-08-282025Gutiérrez-Delicado E, García-Fernández M, Ortiz Cabrera NV, [et al.]. Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations. Pediatr Neurol. 2025 Feb;163:7-11. doi: 10.1016/j.pediatrneurol.2024.11.0030887-8994https://hdl.handle.net/10641/6130Background Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes. Methods We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene. Results A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided. Conclusions Two phenotypes have been identified: 1) three patients presented with developmental and epileptic encephalopathy with focal seizures and epileptic spasms, along with a complex malformation of cortical development within the lissencephaly spectrum, and 2) the fourth patient exhibited developmental and epileptic encephalopathy with spike-and-wave activation in sleep along with bifrontal polymicrogyria. Notably, this is the first reported case of polymicrogyria and epileptic encephalopathy with spike-and-wave activation in sleep with evidence of an underlying genetic disorder.engAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/journal articleembargoed access10.1016/j.pediatrneurol.2024.11.003