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

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Authors: Alessandro Bombaci, Emanuele Micaglio, Sara Benedetti, Gianluca Stufano, Gianni Cutillo, Gabriella Doddato, Sergio Soeren Rossi, Salvatore Mazzeo, Carlo Pappone, Massimo Filippi, Maria Salsone
Cited by: 1
References: 14

Fields of Study & Subjects

Epilepsy research and treatment Genomics and Rare Diseases Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Neurological Sciences
Publisher
Springer Science and Business Media LLC
Volume
47
Issue
8
Publication date
1 August 2026
Language
EN