Article
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.
Orphanet journal of rare diseases - 3 Apr 2026
Nou-Fontanet Laia, Cantalupo Gaetano, Braun Frederik, Camacho Alia Ramírez, Álvarez Verónica González, Chilavert Verónica Delgadillo, Insuga Víctor Soto, Fernández Luisa Arrabal, Alonso-Colmenero Itziar, Arzimanoglou Alexis, Fons Carmen
Abstract excerpt
OBJECTIVES: To expand the clinical features, epilepsy phenotype, and genotype in individuals with AFG2A-related encephalopathy (AFG2A-RE), previously known SPATA5-related encephalopathy, and to explore potential associations between genotype and epilepsy manifestations. METHODS: We conducted a systematic literature review focusing on AFG2A-RE publications (45 patients), also included 6 of our patients recently...
Topics
- Humans
- Epilepsy
- Child
- Male
- Female
- Brain Diseases
- Child, Preschool
- ATPases Associated with Diverse Cellular Activities
- Adolescent
- Spasms, Infantile
- Infant
- Electroencephalography
- Intellectual Disability