The Adelaide Medical School published the Unique PCDH19 guide.The guide can be accessed by clicking on the following link: https://www.rarechromo.org/media/singlegeneinfo/Single%20Gene%20Disorder%20Guides/PCDH19-related%20epilepsy%20FTNW.pdf
Insieme per la Ricerca PCDH19 (“Together for research on PCDH19 – “ Non-profit organization”) ONLUS:
- Know and fight this rare genetic disease
- Support research, in the hope of finding a cure for this disease
- Solicit the cooperation and exchange of information among researchers and investigators
- Improve the quality of life of affected children
- Promote communication among the families involved
- Raise public awareness by diseminating information on the disease
Patients are young or very young little girls and the discovery of an appropriate therapy could change their lives course of their existence. Increasing knowledge and raising awareness in order to increase funding for research is currently the only way we can help our children and any babies born with the condition in the future.
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PCDH19 gene encodes a protein, prothocaderin 19 which is part of a family of molecules supporting the communication of the central nervous system cells.
In case of mutation, prothocaderin 19 may be malformed, reduced in its functions or not produced at all. The abnormal expression of protocadherin 19 causes the occurrence of seizures beginning in the early years of life, they are mostly focal clustered seizures and mostly associated with fever. This form of epilepsy is almost always drug-resistant.
Most of the times epilepsy is associated with a cognitive impairment of varying nature, and behavioral or relational disorders with autistic traits.
The basic mechanism through which PCDH19 mutations cause this rare disease is still unknown. Also, it is not known at the onset which patients will undergo a form of severe epilepsy associated with mental retardation and which patients will have a less severe course.
The PCDH19 gene is located on the X chromosome, of which women have two copies. Thus, in case of mutation, 2 cellular populations are created: one with mutated PCDH19 and one with normal PCDH19. This natural mosaic seems to be harmful for the normal functioning of brain cells. Males have just one X, also have a single copy of PCDH19 gene that, in case of mutation, creates a single and uniform cellular population with a mutation that does not seem to be always harmful for the functioning of brain cells. Many of the mutations noticed up to date are ‘de novo’, i.e. aroused for the first time in the patient. Thus PCDH19 may be familiar, transmitted by healthy carriers fathers or by mothers with such a slight phenotype that does not prevent to have children, or it may arise ‘de novo’.
Scientists are looking at the family of PCDH genes as a promising area for further investigations on epilepsy and other neurological conditions, including autism and obsessive-compulsive disorders.
Currently, there is no cure for children affected by mutation of PCDH19 gene. Patients with a severe disease often require ongoing assistance both for the severity of epilepsy and for their cognitive deficits and behavioral disorders. These little patients are likely to suffer various forms of exclusion, including social exclusion, and their families, in addition to having to deal with the painful reality of the disease, often have no point of reference.
Insieme per la Ricerca PCDH19 was founded in 2011 by an the association of some families of children suffering from this rare disease and has as its primary objective to promote, support and fund scientific research on mutations of the gene PCDH19.