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Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
- Source :
- Annals of neurology, vol 78, iss 2, Annals of Neurology
- Publication Year :
- 2015
- Publisher :
- Elsevier, 2015.
-
Abstract
- The epileptic encephalopathies (EEs) are a devastating group of epilepsies in which epileptic activity and seizures contribute to cognitive impairment or regression.1 Most EEs begin in infancy or early childhood and are associated with poor developmental outcome. Although the cause is unknown in the majority of cases, recent studies confirm that de novo mutations and copy number variants (CNVs) play an important role.2, 3 We recently reported exome sequencing data in 264 parent–proband trios with infantile spasms (n = 149) or Lennox–Gastaut syndrome (LGS; n = 115) without syndromic features or magnetic resonance imaging (MRI) abnormalities from the Epilepsy Phenome/Genome Project (EPGP) cohort, identifying likely pathogenic, de novo sequence changes in >10% of patients.2 Here we report results of copy number analysis derived from the exome data of this cohort and 85 additional patients to further elucidate the genetic architecture of these paradigmatic EEs. Our exome‐based CNV calling yields similar results to array‐based studies for confirmed, de novo, likely pathogenic CNVs.
- Subjects :
- Parents
Male
Epilepsy Phenome/Genome Project Epi4K Consortium
Neurodegenerative
Bioinformatics
Infantile
Spasms
Cohort Studies
Epilepsy
0302 clinical medicine
2.1 Biological and endogenous factors
Exome
Copy-number variation
Aetiology
Child
Exome sequencing
Genetics
Pediatric
0303 health sciences
Neurology
Child, Preschool
Female
Brief Communications
Spasms, Infantile
Sequence Analysis
Adult
DNA Copy Number Variations
Intellectual and Developmental Disabilities (IDD)
Clinical Sciences
Copy number analysis
Phenome
Biology
Brief Communication
03 medical and health sciences
Clinical Research
mental disorders
medicine
Humans
Preschool
030304 developmental biology
Neurology & Neurosurgery
Lennox Gastaut Syndrome
Human Genome
Infant, Newborn
Neurosciences
Infant
1103 Clinical Sciences
Sequence Analysis, DNA
DNA
medicine.disease
Newborn
Brain Disorders
Human genome
Neurology (clinical)
1109 Neurosciences
030217 neurology & neurosurgery
Lennox–Gastaut syndrome
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Annals of neurology, vol 78, iss 2, Annals of Neurology
- Accession number :
- edsair.doi.dedup.....3ef6c5356861521355bd774275af47f9