Diagnostic evaluation of patients with epileptic spasms in the era of next‐generation sequencing

Author:

Mir Ali1ORCID,AlQahtani Mohammed12ORCID,Amer Fawzia13,AlBaradie Raidah1,AlOtaibi Wajd1,AlGhamdi Fouad1,Khallaf Hamoud4,Bashir Shahid5ORCID,Costain Gregory6,Aljouda Liali6,Housawi Yousef4

Affiliation:

1. Department of Pediatric Neurology King Fahad Specialist Hospital Dammam Saudi Arabia

2. Division of Neurology The Hospital for Sick Children Toronto Ontario Canada

3. Department of Pediatric Neurology and Metabolic Cairo University Children Hospital Cairo Egypt

4. Genetic and Metabolic Department King Fahad Specialist Hospital Dammam Saudi Arabia

5. Neuroscience Centre King Fahad Specialist Hospital Dammam Saudi Arabia

6. Program in Genetics and Genome Biology, Division of Clinical and Metabolic Genetics SickKids Research Institute and Hospital for Sick Children Toronto Ontario Canada

Abstract

AbstractObjectiveEpileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next‐generation sequencing (NGS), the recognition of genetic etiologies has increased.MethodsWe retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.ResultsOur data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non‐diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.SignificanceIn this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.

Publisher

Wiley

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