A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-03-19

AUTHORS

Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuko Kato, Hiroshi Oba, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya

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 associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy. To understand phenotypic spectrum associated with PCDH12 variants, more reports are needed. More... »

PAGES

749-753

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0432-0

DOI

http://dx.doi.org/10.1038/s10038-018-0432-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101559180

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29556033


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