A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
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DOI: 10.1038/s10038-018-0432-0
Abstract: Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure… read more here.
Keywords: epilepsy; pcdh12 gene; dyskinetic cerebral; cerebral palsy ... See more keywords