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Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
Features include very common findings: Febrile seizure (within the age range of 3 months to 6 years); and common findings: Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Status epilepticus, and Bilateral tonic-clonic seizure with generalized onset and others. 36 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 32 | Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Status epilepticus |
PCDH19 function has not been fully characterized.
Developmental and epileptic encephalopathy, 9 is associated with mutations in the PCDH19 gene on chromosome X.
Genetic testing for PCDH19 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for developmental and epileptic encephalopathy, 9 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 18 common features.
No clinical trials have been registered for developmental and epileptic encephalopathy, 9.
6 publications have been identified in PubMed for developmental and epileptic encephalopathy, 9. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).
Chen Y (2026). [PMID: 41195782](https://pubmed.ncbi.nlm.nih.gov/41195782/). *Psychiatric genetics*. [Diagnostic / Biomarker]
Tian X (2026). [PMID: 41617776](https://pubmed.ncbi.nlm.nih.gov/41617776/). *Pediatric research*. [Epidemiology / Natural History]
Giansante G (2024). [PMID: 36997609](https://pubmed.ncbi.nlm.nih.gov/36997609/). *Molecular psychiatry*. [Basic Science / Preclinical]
Szalai R (2024). [PMID: 38891919](https://pubmed.ncbi.nlm.nih.gov/38891919/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Gabaldón-Albero A (2024). [PMID: 39457436](https://pubmed.ncbi.nlm.nih.gov/39457436/). *Genes*. [Basic Science / Preclinical]
Alijanpour S (2024). [PMID: 39553263](https://pubmed.ncbi.nlm.nih.gov/39553263/). *Basic and clinical neuroscience*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC
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