Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant
| Autor: | Tatsuro Izumi, Yu Aihara, Shigeo Kure, Atsuo Kikuchi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.diagnostic_test
biology business.industry Germline mosaicism General Medicine Electroencephalography Microcephalus medicine.disease biology.organism_classification 03 medical and health sciences Epileptic spasms Exon 0302 clinical medicine Developmental Neuroscience Pediatrics Perinatology and Child Health Immunology medicine Autism Tonic (music) Neurology (clinical) business 030217 neurology & neurosurgery Exome sequencing |
| Zdroj: | Brain and Development. 43:652-656 |
| ISSN: | 0387-7604 0011-1112 |
| DOI: | 10.1016/j.braindev.2020.12.020 |
| Popis: | 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 spasms, and then clusters of tonic/tonic-clonic seizures, exacerbated by valproate. Electroencephalography showed periodic discharges, including periodic high voltage slow complexes and burst-suppression activity. Whole exome sequencing, using DNA from peripheral blood of both brothers, identified a pathogenic variant, c.2776 C > T, p.(Arg 926*) in exon 9 of IQSEC2 (NM 001111125.3). Their parents and another brother did not have this variant, which may suggest that maternal gonadal mosaicism is the most likely mechanism. |
| Databáze: | OpenAIRE |
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