Author

M. Nizon

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Open access Sep 2026

Acute neuro-inflammatory presentation of ATP1A3 variants: Case reports of three patients with different phenotypes.

Three patients with ATP1A3 variants who presented with initial acute encephalopathy, an unusual presentation, are described to draw clinicians' attention to this lesser-known clinical presentation.

C. Glasson, M. Gibaud, Marie Alesandrini et al. · Archives de pédiatrie · 0 citations

Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · Clinical Genetics · 0 citations