Epileptic encephalopathy
Gene: PCDH12
This gene was added and reviewed by an external reviewer as red to the Epilepsy Plus gene panel on 10th May 2017. One study reporting multiple consanguineous families with the same founder mutation, for a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.Created: 18 Dec 2017, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
4 consanguineous families with the same mutation (c.2515C.T, p.R839X) described by Aran et al (2016) Neurology 86(21):2016-2024.Created: 10 May 2017, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities
Publications
Phenotypes for PCDH12 were set to intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities
PCDH12 was added to Epileptic encephalopathy panel. Sources: Expert Review
PCDH12 was created by Ellen McDonagh