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A. Bombaci

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Case report Aug 2026

A novel FLNA missense variant in a mother–daughter pair with epilepsy: case series evidence of variable multisystem expressivity

Findings support a likely contributory role of FLNA p.Pro1926Ser in a variably expressive neurodevelopmental and multisystem disorder in which epilepsy represents the predominant neurological phenotype.

A. Bombaci, E. Micaglio, Sara Benedetti et al. · 0 citations