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| Early onset or syndromic epilepsy v8.181 | KCNJ4 |
Alexander Symon-Allen gene: KCNJ4 was added gene: KCNJ4 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ4 were set to PMID: 41830586 Phenotypes for gene: KCNJ4 were set to Epileptic encephalopathy; Epilepsy; Developmental delay. Penetrance for gene: KCNJ4 were set to unknown Mode of pathogenicity for gene: KCNJ4 was set to Other Review for gene: KCNJ4 was set to AMBER Added comment: 1 study outlines four unrelated individuals with epilepsy with or without developmental delay that harbour four unique heterozygous KCNJ4 variants - 3 de novo, 1 inherited from an affected parent. Other inwardly rectifying potassium (Kir) channels have been implicated in epilepsy. Patch clamp studies provide preliminary evidence for both loss of function (Val206Met & Met293Lys) and gain of function (Gly136Ser & Glu384Lys) mechanisms. Further independent studies required to confirm this association. Sources: Literature |
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