Journal article
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature
American journal of medical genetics. Part A, Vol.191(1), pp.22-28
01/2023
DOI: 10.1002/ajmg.a.62979
Abstract
Coffin–Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not been undertaken in this population. The International CSS Patient Report Database was queried for patients with self-reported seizures, epilepsy, and EEG results. Data gathered included demographic data, pathogenic gene variants, seizure characteristics and treatments, and EEG findings. In addition, a PubMed search was performed using keywords “Coffin–Siris syndrome” and “epilepsy,” “seizures,” or “EEG.” Results from relevant papers are reported. Twenty-four (7.2%) of 334 patients in the database reported having seizures, EEG abnormalities, and/or epilepsy. Median age of seizure onset was 2. 7 years. Fifteen of the 23 patients with seizures or epilepsy had an ARID1B causative variant. Seventeen patients (5.1%) reported EEG abnormalities, the majority of which were described as focal or multifocal (87.5%). In all but one patient, seizures were controlled on antiseizure medications (ASMs). The literature review yielded 311 unique CSS patients, 82 of which (26.4%) carried diagnoses of seizures or epilepsy. Details on seizure type(s), EEG findings, and response to treatment were limited.
Details
- Title: Subtitle
- Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature
- Creators
- Michael Ciliberto - University of IowaKaren Skjei - The University of Texas at El PasoAshley Vasko - Children's Hospital of The King's DaughtersSamantha Schrier Vergano
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.191(1), pp.22-28
- DOI
- 10.1002/ajmg.a.62979
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Language
- English
- Electronic publication date
- 09/30/2022
- Date published
- 01/2023
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Neurology (Pediatrics)
- Record Identifier
- 9984305044402771
Metrics
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