학술논문
In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.
Document Type
Article
Author
Source
Subject
*SEIZURES (Medicine)
*DYSPLASIA
*GENETIC mutation
*GENETIC disorders
*FETAL diseases
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Language
ISSN
0305-1846
Abstract
The article presents a case study of a gravida 1, para 1, 26-year-old female patient who developed in utero seizures and dentato-olivary dysplasia (DOD), which was caused by mutations in the SCN2A gene. An examination of the fetus from the medical termination of the pregnancy revealed several conditions including fetal karyotype, early-onset epilepsy, and fetal akinesia. The link between DOD and Ohtahara syndrome, cerebellar hypoplasia, microcephaly or corpus callosum agenesis is discussed.