DOAJ Open Access 2022

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A

Menatalla Elwan Ross Fowkes David Lewis-Smith Amy Winder Mark R. Baker +1 lainnya

Abstrak

SMC1A variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy. More recently, SMC1A truncating variants have been described as the cause of a neurodevelopmental disorder with early-childhood onset drug-resistant epilepsy with seizures that occur in clusters, similar to that seen in PCDH19-related epilepsy, but without the classical features of CdLS. Here, we report the case of a 28-year-old woman with a de novo heterozygous truncating variant in SMC1A who unusually presented with seizures at the late age of 12 years and had normal development into adulthood.

Topik & Kata Kunci

Neurology. Diseases of the nervous system Neurophysiology and neuropsychology

Penulis (6)

Menatalla Elwan

Ross Fowkes

David Lewis-Smith

Amy Winder

Mark R. Baker

Rhys H. Thomas

Format Sitasi

APA MLA BibTeX

Elwan, M., Fowkes, R., Lewis-Smith, D., Winder, A., Baker, M.R., Thomas, R.H. (2022). Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A. https://doi.org/10.1016/j.ebr.2022.100556

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Informasi Jurnal

Tahun Terbit: 2022
Sumber Database: DOAJ
DOI: 10.1016/j.ebr.2022.100556
Akses: Open Access ✓