a male with a somatic mosaicism for pcdh19 gene deletion and a dravet-like seizure disorder. the findings resulted in depienne et al. to identify pcdh19 mutations in patients with scn1a negative dravet syndrome. this led to additional reports of pcdh19 positive patients, which broadened the clinical spectrum of the disorder. society and culture caregivers of individuals living with pcdh19 gene-related epilepsy may seek support and information from a variety of resources, including the pcdh19 alliance, the cute syndrome foundation, and insieme per la ricerca pcdh19 - onlus (italy). the pcdh19 world conference, which is organized by insieme per la ricerca pcdh19 - onlus, occurs every other year, in odd years, in rome, italy. in alternating years, the pcdh19 epilepsy professional and family symposium is hosted in san francisco, california. in 2014, the pcdh19 registry was established, which is organized and funded by the pchd19 alliance, boston children's hospital and the university of california, san francisco. international pcdh19 awareness day is held annually on november 9. research registry a pcdh19 registry was established by the pcdh19 alliance, boston children's hospital and the university of california, san francisco, to provide a meaningful resource of patients with pcdh19 gene-related epilepsy and to better understand the epilepsy and behavioral aspects associated with the mutation. parallel associations european families are sponsoring basic and applied research in an australian team and researching in other projects with the aim of finding a drug target for epilepsy pcdh19. basic research ann poduri and alex rotenberg at boston children's hospital are currently conducting pcdh19-related epilepsy in zebrafish. the research, which is funded by grants from the cute syndrome foundation and the richard a. and susan f. smith president's innovation fund of boston children's hospital, hopes to establish an animal model of pcdh19 gene-related epilepsy, which can then be used to screen potential therapeutics and treatments. dr. jack parent and his research team at the university of michigan are currently conducting research to understand how pchd19 gene mutations leads to disruptions in brain development. the research, funded by a grant from the cute syndrome foundation, is seeking to reprogram fibroblasts from subjects with the pchd19 mutation into induced pluripotent stem cells (ipsc), which will then be used to make patient-specific neurons in a cell culture environment. the researchers are looking to see if these patient-specific neurons produce epileptic-like activity, as well as to discover the mechanism underlying the seizures and cognitive dysfunction associated with pcdh19 mutations. the cute syndrome foundation and insieme per la ricerca pcdh19 - onlus recently awarded a two-year research grant to drs. maria passafaro and elena battaglioli, from the cnr neuroscience institute and university of milano, respectively. the researchers plan to unravel the molecular mechanism of pcdh19 gene mutations. the proposal also includes using aon exon skipping, which would be the first use of this method in epilepsy. parallel associations european families are sponsoring basic and applied research in an australian team and researching in other projects with the aim of finding a drug target for epilepsy pcdh19. gene therapy it was assumed that all encephalopathies or cognitive impairments were irreversible, but an experiment with mice showed that is not always the case. in that experiment, mecp2 protein was blocked; males died, and females developed rett syndrome (seizures, cognitive and psychomotor problems, respiratory problems, etc.) when the researchers reversed the situation and let the mecp2 protein work properly, the mice recovered. this research revolutionized understanding regarding genetic syndromes that present with neurological impairment or intellectual disabilities. therapeutics in february 2015, marinus pharmaceuticals commenced a phase 2 proof-of-concept clinical trial to evaluate the safety and efficacy of ganaxolone, a synthetic analog of the neurosteroid allopregnanolone, for the treatment of uncontrolled seizure in pediatric females with pcdh19 gene-related epilepsy. the study will enroll up to 10 female pediatric patients, between the ages of 2 and 10 years old, with a confirmed pcdh19 genetic mutation. the primary endpoint of the study is percent change in seizure frequency per 28 days relative to baseline. the epilepsies research centre and department of medicine, university of melbourne, are working on a compound to treat this disease. on may 26, 2011 it patented a method of diagnosis and pcdh19 gene-related epilepsy treatment. notes cell adhesion is mediated by cell surface proteins.