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Author

G. Barcia

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Review Open access Jul 2026

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease leads to a severe neurodegenerative phenotype, characterized by early-onset motor and cognitive delays, with a consistent neuroimaging signature involving the striatum and brainstem.

Claire-Marine Bérat, G. Barcia, P. Gaignard et al. · 0 citations
Review Open access Jul 2026

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies

A comprehensive understanding of the clinical spectrum and genotype-phenotype correlation in KCNT1-related disorders is offered and the need to develop multisource data methodologies and registries to reduce follow-up loss in real-world data collections based on health records is highlighted.

Mathilde Gras, Gaëlle Quentin-Romand, N. Chemaly et al. · 0 citations

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