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Multiplex families with epilepsy: Success of clinical and molecular genetic c...

Afawi(Zaid),Oliver(Karen L),Kivity(Sara),M... Neurology 2016-07-01

...PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygo...

PCDH19-related epilepsy in two mosaic male patients.

Terracciano(Alessandra),Trivisano(Marina),... Epilepsia 2016-07-28

...PCDH19 point mutation in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. The system all...

Protocadherins control the modular assembly of neuronal columns in the zebraf...

Cooper(Sharon R),Emond(Michelle R),Duy(Pha... J Cell Biol 2016-03-09

...pcdh19 is expressed in discrete columns of neurons, and that these columnar modules are derived from proliferative pcdh1...

Expression of candidate genes for residual feed intake in Angus cattle.

Al-Husseini(W),Gondro(C),Quinn(K),Herd(R M... Anim Genet 2015-03-30

...PCDH19, S100A10, SERPINI2 and SOD3), previously identified as differentially expressed between divergent lines of high- ...

Inversion of layer-specific cadherin expression profiles and maintenance of c...

Stoya(Gudrun),Redies(Christoph),Schmid-Her... J Comp Neurol 2015-09-22

...Pcdh19) and of the transcription factors ER81 and Cux2 by in situ hybridization in the (peri-)archicortex. All cadherins...

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu(Saadet),Patel(Jaina),C... Epilepsia 2015-07-23

...PCDH19, and SLC9A6 genes. Forty-five percent of patients obtained a genetic diagnosis by targeted next-generation sequen...

Cognitive development in females with PCDH19 gene-related epilepsy.

Cappelletti(Simona),Specchio(Nicola),Moave... Epilepsy Behav 2015-08-10

Mutations in the PCDH19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the...

[A patient with an early diagnosis of PCDH19-related epilepsy].

Hoshina(Megumi),Higurashi(Norimichi),Abe(Y... No To Hattatsu 2015-11-30

...PCDH19-related epilepsy, which we first suspected when the patient was 11 months old. Genetic analysis of PCDH19 reveale...

PCDH19 mutations in female patients from Southern Italy.

Gagliardi(Monica),Annesi(Grazia),Sesta(Mic... Seizure 2015-08-31

...PCDH19 gene (Xq22) in female patients with epilepsy, from Southern Italy.,Direct sequencing of PCDH19 gene was conducted...

Identification of four novel PCDH19 Mutations and prediction of their functio...

Leonardi(Emanuela),Sartori(Stefano),Vecchi... Ann Hum Genet 2015-11-12

The PCDH19 gene encodes protocadherin-19, a transmembrane protein with six cadherin (EC) domains, containing adhesive in...

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