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Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Nicholas M Allen1, Judith Conroy2, Amre Shahwan1

  • 1Department of Child Neurology & Clinical Neurophysiology, Children's University Hospital, Temple St., Dublin, Ireland.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|April 30, 2015
PubMed
Summary

Chromosomal microarray testing is valuable for diagnosing severe early onset epilepsy in children. This genetic test identified copy number and pathogenic variants in a significant portion of unexplained cases, aiding diagnosis.

Keywords:
EpilepsyEpileptic encephalopathyInfantile spasmsWest syndrome

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Severe early onset epilepsy impacts cognitive and motor development.
  • Causes include metabolic disorders, brain lesions, and genetic conditions.
  • Many cases remain unexplained, posing diagnostic challenges.

Purpose of the Study:

  • To evaluate the clinical utility of chromosomal microarray (array-comparative genomic hybridisation, CGH) in children with severe early onset epilepsy.
  • To identify genetic causes in a cohort of unexplained cases.

Main Methods:

  • A cohort of 51 children with unexplained severe early onset epilepsy was studied.
  • Chromosomal microarray analysis was performed on all participants.

Main Results:

  • Chromosomal microarray detected copy number variants in 17.6% of infants.
  • Pathogenic variants were identified in 5.9% of infants with unexplained severe early onset epilepsy.

Conclusions:

  • Chromosomal microarray is a beneficial diagnostic tool for early onset refractory epilepsy and epileptic encephalopathy.
  • Careful analysis of array abnormalities and associated phenotypes is crucial for clinical significance.