PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder
نویسندگان
چکیده
منابع مشابه
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
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 epi...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2012
ISSN: 1059-7794
DOI: 10.1002/humu.22029