| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2118 | RAI1 | Zornitza Stark Marked gene: RAI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2118 | RAI1 | Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2118 | RAI1 | Zornitza Stark Classified gene: RAI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2118 | RAI1 | Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2112 | RAI1 |
Belinda Chong gene: RAI1 was added gene: RAI1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAI1 were set to 36256819; 11404004; 12652298; 15788730 Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome MIM#182290 Review for gene: RAI1 was set to GREEN gene: RAI1 was marked as current diagnostic Added comment: PMID 36256819: Spontaneous seizures have been detected in 30% of Rai1−/− mice and SMS patients PMID: 16566870: Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical seizures, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype. Sources: Literature |
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