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.
· Neurological Sciences · 0 citations