Duszyc(Kinga),Terczynska(Iwona),Hoffman-Za... J Appl Genet 2015-06-01

...PCDH19 gene (locus Xq22.1) encoding protocadherin-19, a protein that is highly expressed during brain development. The p...

Higurashi(Norimichi),Nakamura(Mai),Sugai(M... Epilepsy Res 2014-03-19

...PCDH19-related epilepsy by focusing on its early features and treatment efficacy. PCDH19 was analyzed in 159 Japanese fe...

Vincent(A K),Noor(A),Janson(A),Minassian(B... Clin Genet 2013-04-12

...PCDH19 gene (also TNMD, SRPX2, TSPAN6 and SYTL4). In conclusion, our results suggest that deletions at PCDH19 also cause...

Terracciano(A),Specchio(N),Darra(F),Sferra... Neurogenetics 2013-04-10

...PCDH19 gene, located on chromosome X and encoding for protocadherin 19. EFMR shows a rare X-linked inheritance wherein a...

Marini(Carla),Darra(Francesca),Specchio(Ni... Epilepsia 2013-02-01

Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without men...

Redies(Christoph),Hertel(Nicole),Hübner(Ch... Brain Res 2013-01-15

...PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with a...

Akiyama(Mari),Kobayashi(Katsuhiro),Ohtsuka... Acta Med Okayama 2013-06-19

...PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might acco...

Appenzeller(Silke),Helbig(Ingo),Stephani(U... Dev Med Child Neurol 2013-02-07

...PCDH19), sodium channel protein type 1 subunit alpha (SCN1A), and DNA polymerase subunit gamma-1 (POLG) mutations. The a...

Lin(Juntang),Yan(Xin),Wang(Congrui),Guo(Zh... J Anat 2013-03-25

...Pcdh19 are also expressed in blood vessels of the cochlea. The expression of the different δ-Pcdhs suggests a functional...

Dimova(Petia S),Kirov(Andrey),Todorova(Alb... Pediatr Neurol 2013-03-29

...PCDH19 mutation inherited from an unaffected heterozygous female carrier. It indicates that PCDH19 mutation testing shou...