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| Genetic Epilepsy v0.2316 | WASHC4 | Elena Savva Marked gene: WASHC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2316 | WASHC4 | Elena Savva Gene: washc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2316 | WASHC4 |
Elena Savva gene: WASHC4 was added gene: WASHC4 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC4 were set to PMID: 34599609 Phenotypes for gene: WASHC4 were set to Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Review for gene: WASHC4 was set to RED Added comment: PMID: 34599609 - two siblings, only 1 sibling presented with epilepsy with generalized tonic–clonic seizures and received oxcarbazepine (seizure-free on therapy). They were homozygous for a missense, some functional studies supporting pathogenicity. Review of previous reports did NOT describe any other reports of seizures. Sources: Literature |
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