Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant
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DOI: 10.1016/j.braindev.2020.12.020
Abstract: Two brothers with an IQSEC2 pathogenic variant presented with early onset intellectual disability, intractable epileptic seizures, autism spectrum disorders, postnatal microcephalus and slowly progressive rigid-spasticity. Their epileptic seizures were characterized by intractability, early onset epileptic… read more here.
Keywords: brothers iqsec2; two brothers; pathogenic variant; variant ... See more keywords