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• W3210051921 abstract "Juberg RC, Hellman DC. A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr 1971;79:726-3. Juberg and Hellman reported the occurrence of a new form of epilepsy, sometimes concomitant with intellectual disability, which only occurred in female patients. Fifteen female patients, related as either sisters or first cousins through their fathers, were documented to have seizures. It was postulated that this was the result of an inherited genetic mutation within a single gene with sex-limited expression. This clinical presentation was later called epilepsy and mental retardation limited to females (EMFR). In 2008, Dibbens et al identified protocadherin 19 (PCDH19) gene mutations in patients with EMFR.1Dibbens L.M. Tarppey P.S. Hynes K. Bayly M.A. Scheffer I.E. Smith R. et al.X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nat Genet. 2008; 40: 776-781Crossref PubMed Scopus (326) Google Scholar PCDH19, located on chromosome Xq22.1, is thought to mediate cell–cell adhesion and movement contributing to neural development in utero. Since 2008, there have been more than 200 documented mutations of PCDH19, with clinical symptoms varying from early-onset epilepsy to intellectual disabilities, to behavioral disturbances. Overall, there is an estimated prevalence of 15 000 to 30 000 female patients affected in the US with EMFR. Somatic tissue mosaicism in which mosaic female patients have PCDH19-positive and PCDH19-negative cells is postulated to adversely alter brain neuronal cell communication in females resulting in EMFR. Conversely, male patients with the PCDH19 mutation are hemizygous and thus have a homogeneous population of cells that are PCDH19 negative. It is hypothesized that the role of PCDH19 in phenotypically normal transmitting male patients is compensated by a gene on the Y chromosome, PCDH11Y. Both PCDH19 and PCDH11Y are expressed in the amygdala and developing cortical plate. This mechanism of EMFR inheritance is unique, with 2 other disorders, craniofrontonasal dysplasia and primary open angle closure glaucoma, currently attributable to cellular interference. There is a genotype–phenotype correlation with EMFR where patients with truncating variants identified in extracellular cadherin domains 1 through 4 (EC1 to EC4) present with earlier onset of seizures and increased severity of intellectual disease relative to those with variation in EC5 to the cytoplasmic domain.2Shibata M. Ishii A. Goto A. Hirose S. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.J Human Genet. 2021; 66: 569-578Crossref PubMed Scopus (8) Google Scholar" @default.
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• W3210051921 title "50 Years Ago in T J P" @default.
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• W3210051921 doi "https://doi.org/10.1016/j.jpeds.2021.08.047" @default.
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