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An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
Features include very common findings: Seizure, Aggressive behavior, Specific learning disability, and Macrocephaly. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Seizure, Aggressive behavior, Autistic behavior |
Head and neck | 1 | Macrocephaly |
SYN1 function has not been fully characterized.
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders is associated with mutations in the SYN1 gene on chromosome X.
Genetic testing for SYN1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 very common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for epilepsy, X-linked 1, with variable learning disabilities and behavior disorders.
1 publication has been identified in PubMed for epilepsy, X-linked 1, with variable learning disabilities and behavior disorders. Research spans Basic Science / Preclinical (100%).
Moya Quiros V (2024). [PMID: 39177219](https://pubmed.ncbi.nlm.nih.gov/39177219/). *Ann Neurol*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC
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Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Updated Feb 1, 2026
A case report details a patient with Rasmussen's encephalitis who experienced a decade of refractory epilepsy and hemispheric atrophy. This study contributes to the understanding of the disease's progression and potential treatment challenges.
Regla María Garci Espejo shares her personal story of growing up with a sister affected by West syndrome, a severe early-onset epilepsy. This narrative highlights the challenges faced by families dealing with rare diseases and aims to raise awareness.
CDC releases new data on epilepsy, highlighting demographic trends in adoption among men and women aged 18-44. The report aims to raise awareness about epilepsy and its impact on family dynamics.
A CDC study reveals that approximately 1% of adults have active epilepsy, with over one-third not receiving adequate treatment. This highlights the ongoing need for improved awareness and access to care for individuals with epilepsy.
The CDC reports that smoking rates are highest among individuals with disabilities, highlighting significant health disparities. This finding underscores the need for targeted public health initiatives to address these inequalities.