PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

  title={PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.},
  author={Christel Depienne and Eric Leguern},
  journal={Human mutation},
  volume={33 4},
PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections. PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of… CONTINUE READING
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