ArticleBMC medical genomics2020
A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 3 citations in OpenAlex.
- miR-548az-5p induces amniotic epithelial cell senescence by regulating KATNAL1 expression in labor.Scientific reports · 2024Article
- Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.American journal of medical genetics. Part A · 2024Article
- A Case Report on 13q12.3 Microdeletion Syndrome Caused byCase reports in genetics · 2024Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
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Abstract
backgroundThe microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3. CASE PRESENTATION: The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied with intellectual disability, developmental delay and minor dysmorphic features. The electroencephalogram disclosed slow waves in bilateral temporal, together with generalized spike-and-slow waves, multiple-spike-and-slow waves and slow waves in bilateral occipitotemporal regions. The exome sequencing showed no pathogenic genetic variation in the patient's DNA sample. While the single nucleotide polymorphism (SNP) array analysis revealed a de novo microdeletion spanning 2.324 Mb, within the cytogenetic band 13q12.3.
conclusionsThe epilepsy may be associated with the mutation of KATNAL1 gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion.
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