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The protein encoded by PCDH19 is a member of the delta-2 protocadherin subclass of the cadherin superfamily. Additionally we are shipping Protocadherin 19 Antibodies (11) and many more products for this protein.
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PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain
Two mosaic PCDH19 point mutations are described in male patients with PCDH19-related epilepsy.
steroids and in particular neurosteroids (e.g. allopregnanolone) play an important role in PCDH19-FE and represent a realistic therapeutic target.
This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol
This study proposes corticosteroid treatment as an efficacious adjunctive treatment for the acute symptoms of PCDH19-Generalized Convulsive Epilepsy and suggests BBB involvement in this disease.
analysis of four novel mutations in the PCDH19 gene found in isolated cases of girls with infantile onset epilepsy
The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation.
girls with a de novo mutation in PCDH19 presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages
Epileptic encephalopathy related to mutations in the PCDH19 genes.
PCDH19-related epilepsy could be considered a well-defined epileptic syndrome, affecting only females, included in the group of epilepsies with febrile and afebrile seizures [review]
Pcdh19 gene is developmentally regulated during mouse organogenesis and shows a unique expression profile among protocadherins.
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.