A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

@article{Mizuguchi2019ANH,
  title={A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21},
  author={T. Mizuguchi and M. Nakashima and L. H. Moey and G. S. Ch’ng and T. Khoo and S. Mitsuhashi and S. Miyatake and A. Takata and N. Miyake and H. Saitsu and N. Matsumoto},
  journal={Journal of Human Genetics},
  year={2019},
  volume={64},
  pages={347-350}
}
  • T. Mizuguchi, M. Nakashima, +8 authors N. Matsumoto
  • Published 2019
  • Biology, Medicine
  • Journal of Human Genetics
    • We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of NECAP1. The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. His electroencephalogram (EEG) showed a burst suppression pattern, leading to the diagnosis of Ohtahara syndrome. Whole-exome sequencing revealed the canonical splice-site variant (c.301 + 1 G > A) in NECAP1. In rodents, Necap1 protein is enriched in neuronal clathrin… CONTINUE READING
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