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Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.

Eliane ChoueryCybel MehawejSandra SabbaghJamal BleikAndre Megarbane
Published in: European journal of neurology (2022)
Here, we report the first homozygous missense mutation in the NECAP1 gene in a 9-month-old girl presenting with EIEE. Our findings allow a better characterization of the NECAP1-linked disease and enable broadening its clinical spectrum by including, in addition to EIEE, severe generalized hypotonia, poor feeding, developmental delay, severe microcephaly, delayed myelination, abnormalities of the corpus callosum, and eye abnormalities.
Keyphrases
  • early onset
  • intellectual disability
  • zika virus
  • copy number
  • autism spectrum disorder
  • dna methylation