Kwong(Anna Ka-Yee),Fung(Cheuk-Wing),Chan(S... PLoS One 2013-04-09

...PCDH19 p.D377N mutation was identified in one SCN1A-negative female patient with Dravet syndrome and a known PCDH19 p.N3...

Hertel(Nicole),Redies(Christoph),Medina(Lo... J Comp Neurol 2013-05-01

...PCdh19) were studied by in situ hybridization in the postnatal (P5) and adult mouse amygdala. In the different parts of ...

Scheffer(Ingrid E) Eur J Paediatr Neurol 2013-03-12

...PCDH19 mutational analysis is a second-tier test for girls with a Dravet-like picture who do not have SCN1A mutations. O...

Gaily(Eija),Anttonen(Anna-Kaisa),Valanne(L... Epilepsia 2013-11-13

...PCDH19. Prolonged seizures were associated with acute encephalopathy in three SCN1A mutation-positive patients. One show...

van Harssel(J J T),Weckhuysen(S),van Kempe... Neurogenetics 2013-08-05

Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expressio...

Lin(Juntang),Wang(Congrui),Redies(Christop... Gene Expr Patterns 2013-09-04

...Pcdh19 is mostly expressed at the anterior side of epidermis as well as in the blood vessels of the feather buds. Furthe...

Sharma(Suvasini),Prasad(Asuri N) Can J Neurol Sci 2013-03-19

...PCDH19), Sodium channel neuronal type 1a subunit gene (SCN1A), Aristaless-Related Homeobox Gene (ARX), and Syntaxin bind...

Depienne(Christel),LeGuern(Eric) Hum Mutat 2012-07-09

...PCDH19 gene to date and report on new mutations. PCDH19 has become the second most relevant gene in epilepsy after SCN1A...

Lin(Juntang),Wang(Congrui),Redies(Christop... J Comp Neurol 2012-08-17

...Pcdh19) from the chicken, and investigated their expression in the developing chicken spinal cord by in situ hybridizati...

Mastrangelo(Mario),Leuzzi(Vincenzo) Pediatr Neurol 2012-04-24

...PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).