A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

doi:10.1038/s10038-018-0432-0

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Article

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

Journal of human genetics - 1 Jun 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 29556033
DOI: 10.1038/s10038-018-0432-0

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PCDH12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.