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The protein encoded by PCDH19 is a member of the delta-2 protocadherin subclass of the cadherin superfamily. Zusätzlich bieten wir Ihnen Protocadherin 19 Antikörper (21) und Protocadherin 19 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
We report the fifth confirmed male with somatic mosaicism of a novel pathogenic variant c.2147+2 T>C located in the splice site of Intron 1 of the PCDH19 gene, which continues to support that cellular interference is responsible for the pathogenic mechanism
This is the second male with somatic mosaicism for PCDH19 deficiency, providing further support for cellular interference as the pathogenic mechanism for this condition, which leads to this unusual mode of inheritance in which females are more severely affected than males.
Our results show a large spectrum of intellectual disability and a very high rate of Autism spectrum disorder in patients with epilepsy and PCDH-19 mutations
These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19-FE. Some of these defects could be addressed by stimulating adrenocortical activity.
Results summarized the clinical spectrum of female epilepsy patients with protocadherin 19 (PCDH19) mutations in a Chinese population.
mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19-related epilepsy
The study demonistrated that most effective drugs in patients with PCDH19 mutations were bromide and clobazam.
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.
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.