Article
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
International journal of molecular sciences - 28 Oct 2022
Cattelani Cecilia, Battistella Ingrid, Di Leva Francesca, Fioravanti Giulia, Benedicenti Francesco, Stanzial Franco, Schwienbacher Christine, Fanelli Francesca, Pramstaller Peter P, Hicks Andrew A, Conti Luciano, Corti Corrado
Abstract excerpt
Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial features and early onset of refractory seizures. Here we report the generation of the first induced pluripotent stem cell (iPSC) lines from a patient with treatment-resistant...
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