NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay.
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
Politano, Davide;Gana, Simone;Pezzotti, Elena;Pasca, Ludovica;Carmen Barbero, Veronica;Pichiecchio, Anna;Maria Valente, Enza;Errichiello, Edoardo
2022-01-01
Abstract
NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay.File in questo prodotto:
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