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PO-0483a The Application Of Next Generation Sequencing In Clinical Diagnosis Of Neonatal Seizure
  1. W Zhou,
  2. Y Lin,
  3. L Hu,
  4. L Wang
  1. Department of Neonatology, Children’s Hospital of Fudan University, Shanghai, China

Abstract

Objective For 26 patients with neonatal seizure, we designed a panel with 741 seizures related genes and performed target sequencing.

Methods The subjects were consisted of 26 neonatal convulsions with unknown cause. Among them, 18 (69.2%) were female and 8 (30.8%) were male. 741 genes coding regions capture was performed using the SureSelect Target Enrichment kit from Agilent.

Results Overall, we identified 87,920 SNVs in 26 patients. Of the 1497 variants with unknown significant (VUSs), 3 were nonsense variants, 3 were in splicing site, and 33 missense variants were predicted to be damage by SIFT and PolyPhen2. These 39 variants affected 32 genes were found in 19 probands. We identified pathogenetic mutations in 7 cases (26.9%).

Conclusion The sequencing analysis of 741 seizures related genes was performed in 26 patients with neonatal convulsions. We identified pathogenetic mutation in 6 cases (23.1%) which may contribute to the selection of specific medication treatment.

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