Anatomo-electro-clinical phenotypes in children with epilepsy and DYNC1H1 mutations.

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Abstract

Background 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.