Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
Titel:
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
Auteur:
Fichera, Marco Failla, Pinella Saccuzzo, Lucia Miceli, Martina Salvo, Eliana Castiglia, Lucia Galesi, Ornella Grillo, Lucia Calì, Francesco Greco, Donatella Amato, Carmelo Romano, Corrado Elia, Maurizio