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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...

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Archive ouverte | Milh, Mathieu | CCSD

International audience. BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological deve...

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Archive ouverte | Abidi, Affef | CCSD

International audience. Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed ...

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