ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

• Main Authors: Giusi Ferrara (Author), Gianni Cutillo (Author), Irene Peterlongo (Author), Eleonora Minacapilli (Author), Maria Iascone (Author), Pierangelo Veggiotti (Author), Isabella Fiocchi (Author)
• Formato: Livro
• Publicado em: Wiley, 2024-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Objective We present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and behavioral abnormalities. Methods Case...