Recombinant Human Protocadherin-19 (PCDH19), partial

1. we have added to the characterization of PCDH19-related epilepsy. In addition to epilepsy, affected individuals display a complex neuropsychiatric syndrome in which the behavioral and sleep dysregulation are prominent. PMID: 29377098
2. reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder PMID: 28669061
3. 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 PMID: 28462982
4. 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. PMID: 27016041
5. 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 PMID: 27179713
6. 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. PMID: 28471529
7. Results summarized the clinical spectrum of female epilepsy patients with protocadherin 19 (PCDH19) mutations in a Chinese population. PMID: 27527380
8. mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19-related epilepsy PMID: 26898795
9. The study demonistrated that most effective drugs in patients with PCDH19 mutations were bromide and clobazam. PMID: 26820223
10. PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain PMID: 26450854
11. Two mosaic PCDH19 point mutations are described in male patients with PCDH19-related epilepsy. PMID: 26765483
12. steroids and in particular neurosteroids (e.g. allopregnanolone) play an important role in PCDH19-FE and represent a realistic therapeutic target. PMID: 26123493
13. This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol PMID: 25510386
14. 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. PMID: 25891919
15. analysis of four novel mutations in the PCDH19 gene found in isolated cases of girls with infantile onset epilepsy PMID: 25227595
16. 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. PMID: 25218114
17. 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 PMID: 25499160
18. Epileptic encephalopathy related to mutations in the PCDH19 genes. PMID: 25818041
19. 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] PMID: 25204757
20. This study highlighted the significance of PCDH19 deletion, a unique pattern of initial seizure clusters, and the efficacy of antiepileptic drugs PMID: 23712037
21. Phenotypic spectrum associated with PCDH19 mutations in Dravet-like and epilepsy and mental retardation limited to females patients and in males with autism spectrum disorders. PMID: 23334464
22. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with Dravet syndrome [review] PMID: 23093055
23. Deletions at PCDH19 cause female-restricted epilepsy with mental retardation. PMID: 22091964
24. this study describes a PCDH19 mutation segregating from an asymptomatic mother to an epilepsy with mental retardation patient. PMID: 22949144
25. SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome PMID: 22848613
26. Mutations in PCDH19 and other genes with rare copy number variations are not responsible for febrile infection-related epilepsy syndrome (FIRES). PMID: 23066759
27. This study demonistrated that most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. PMID: 22946748
28. This study presented that PCDH19 mutation cause of genetic epilepsy in females. PMID: 22504056
29. PCDH19 mutation is a relatively frequent cause of epilepsy in Japanese females. PMID: 22050978
30. case report of missense heterozygous c.1129G>C (p.Asp377His) mutation and acute-onset epilepsy triggered by fever PMID: 21777234
31. mutations in PCDH19 are a relatively frequent cause of epilepsy in females. PMID: 21053371
32. missense and frameshift mutations and spectrum of resulting epilepsy phenotypes in female patients PMID: 21480887
33. findings show that gonadal mosaicism of a PCDH19 mutation in a parent is an important molecular mechanism associated with the inheritance of epilepsy and mental retardation in females PMID: 21519002
34. Cognitive impairment in patients with PCDH19 mutations and a Dravet-like phenotype varies in severity, and no sufficient evidence exists that any correlation exists between type of mutation and severity of cognitive impairment and epilepsy [review] PMID: 21504426
35. Article shows importance of testing PCDH19 in females with early onset epilepsy, intellectual impairment, and autistic features, regardless of family history. PMID: 20830798
36. This study indicted that PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation. PMID: 20713952
37. Using a sample of male subjects diagnosed with autism spectrum disorders, markers were tested covering the entire X chromosome using a family-based association study. Association was revealed at DXS8043 (P=0.0101). PMID: 16261168
38. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment PMID: 18469813
39. Mutation of PCDH19 plays a major role in epileptic encephalopathies, mainly affects females. PMID: 19214208

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HGNC: 14270

OMIM: 300088

KEGG: hsa:57526

STRING: 9606.ENSP00000362125

UniGene: Hs.4993