| Gene Symbol | ent-gene-754e1192 |
| Gene | PCDH19 (Protocadherin 19) located on chromosome Xq21.3 |
| Inheritance | X-linked dominant — affected heterozygous females, carrier males typically unaffected |
| Mutation types | Loss-of-function (truncating, missense) — majority are pathogenic variants |
| Protein | Protocadherin 19 — cell adhesion molecule involved in neural development |
| Seizure onset | Typically 6 months to 5 years of age |
| Seizure types | Multiple types including focal seizures, generalized tonic-clonic seizures, febrile seizures, infantile spasms |
| Developmental impact | Intellectual disability (mild to severe), developmental regression |
| Associated features | Autism spectrum disorder, ADHD, movement disorders |
| Seizure prognosis | Often refractory to ASMs; approximately 30-40% are drug-resistant |
| Cell-type specificity | Targeting excitatory neurons while avoiding off-target effects |
| Expression level | Achieving physiologic expression levels is critical |
| Immunogenicity | Pre-existing AAV antibodies in pediatric population |
| BBB penetration | Achieving broad CNS distribution from peripheral delivery |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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