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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...

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Archive ouverte | Mignot, Cyril | CCSD

International audience. Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.Meth...

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Archive ouverte | Mignot, Cyril | CCSD

International audience. This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been...

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