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.
Politano, Davide;Gana, Simone;Pezzotti, Elena;Pasca, Ludovica;Carmen Barbero, Veronica;Pichiecchio, Anna;Maria Valente, Enza;Errichiello, Edoardo
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