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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1467560
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