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
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| Description | scientific article published on 17 January 2019 |
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author: Donatella Greco Lucia Grillo Ornella Galesi Lucia Castiglia Pinella Failla Carmelo Amato Marco Fichera Lucia Saccuzzo Corrado Romano Francesco Cali |
| Publication date | January 17, 2019 |
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