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| Intracerebral calcification disorders v1.10 | SCN2A |
Anna de Burca gene: SCN2A was added gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to PMID:24579881 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 Review for gene: SCN2A was set to RED Added comment: Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice. Sources: Literature |
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