title: The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
abstract: Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater clinical yield than karyotype analysis. This study assessed the clinical utility of single-nucleotide polymorphism microarray in patients with epilepsy. Study subjects were patients between the ages of birth to 23 years who were diagnosed with epilepsy and had a microarray performed at Cincinnati Children's Hospital Medical Center. Statistical analysis explored the association of microarray results and brain magnetic resonance imaging (MRI), seizure type, and structural malformations. Approximately 17.7% (26/147) of participants had an abnormal microarray as defined by laboratory guidelines. There were no differences in frequency of abnormal brain MRI or seizure type between the abnormal and normal microarray groups. There was a higher prevalence of musculoskeletal malformations (P < .0035) and cardiovascular malformations (P < .0081) in subjects with abnormal microarrays. Clinicians should consider microarray analysis in individuals who have epilepsy, especially in combination with musculoskeletal malformation or cardiovascular malformation.
authors: Genetic Counseling Program, School of Medicine, University of Cincinnati, Cincinnati, OH, USA.
authors: Sarah A
authors: SA
authors: Hrabik
authors: Division of Child Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Shannon M
authors: SM
authors: Standridge
authors: Division of Child Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Hansel M
authors: HM
authors: Greiner
authors: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Derek E
authors: DE
authors: Neilson
authors: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Valentina V
authors: VV
authors: Pilipenko
authors: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Sarah L
authors: SL
authors: Zimmerman
authors: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors: Jessica A
authors: JA
authors: Connor
authors: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Christine.Spaeth@cchmc.org.
authors: Christine G
authors: CG
authors: Spaeth
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D062606:Tertiary Care Centers; D055815:Young Adult
keywords: epilepsy; genetics; seizures; single-nucleotide polymorphism microarray; testing