Copy number variation in genetic epilepsy with febrile seizures plus.

Copy number variation in genetic epilepsy with febrile seizures plus. Eur J Paediatr Neurol. 2020 Jun 20;: Authors: Fortin O, Vincelette C, Chénier S, Ghais A, Shevell MI, Simard-Tremblay E, Myers KA Abstract AIM: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals may have a variety of epilepsy phenotypes, the most common being febrile seizures (FS) and febrile seizures plus (FS+). We investigated the possible contribution of copy number variation to GEFS+. METHOD: We searched our epilepsy research database for patients in GEFS + families who underwent chromosomal microarray analysis. We reviewed the clinical features and results of genetic testing in these families. RESULTS: Of twelve families with available microarray data, four had at least one copy number variant (CNV) identified. In Family 1, the proband had a maternally-inherited 15q11.2 deletion. In Family 5, four different CNVs were identified, variably present in the affected individuals; this included a 19p13.3 deletion affecting CACNA1A. Finally, in both Families 9 and 10, the proband had Dravet syndrome with pathogenic SCN1A variant, as well as a CNV (10q11.22 duplication in Family 9 and 22q11.2 deletion in Family 10). INTERPRETATION: The significance of these specific variants is difficult to precisely determine; however, there appeared to be an overrepresentation of CNVs in this sm...
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research