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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Archive ouverte | Di Meglio, Chloé | CCSD

International audience. Objective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome , with a mutation de...

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Archive ouverte | Milh, Mathieu | CCSD

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Archive ouverte | Abidi, Affef | CCSD

International audience. Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypi...

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