Activity
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7 actions
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| Genetic Epilepsy v0.2191 | KRIT1 | Elena Savva Classified gene: KRIT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2191 | KRIT1 | Elena Savva Gene: krit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2191 | KRIT1 | Elena Savva Classified gene: KRIT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2191 | KRIT1 | Elena Savva Gene: krit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2190 | KRIT1 | Elena Savva Marked gene: KRIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2190 | KRIT1 | Elena Savva Gene: krit1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2190 | KRIT1 |
Elena Savva gene: KRIT1 was added gene: KRIT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRIT1 were set to 35836010; 35444609 Phenotypes for gene: KRIT1 were set to Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860 Review for gene: KRIT1 was set to GREEN Added comment: Seizures noted as a feature in OMIM PMID: 35836010 - proband presenting with seizures, nausea and vomiting, tachycardia, and bulging fontanelles PMID: 35444609 - Family with CCM, segregated extensively. Only a single relative had seizures, but infrequently. Review, notes ~60% of individuals with cavernous hemangioma will experience seizures GeneReviews - "The cumulative incidence of childhood seizures is ~20% (~60% by age 80 yrs)." Sources: Literature |
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