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Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Clinical genetics - 1 Nov 2020

Minardi Raffaella, Licchetta Laura, Baroni Maria Chiara, Pippucci Tommaso, Stipa Carlotta, Mostacci Barbara, Severi Giulia, Toni Francesco, Bergonzini Luca, Carelli Valerio, Seri Marco, Tinuper Paolo, Bisulli Francesca

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) encompass rare, sporadic neurodevelopmental disorders and usually with pediatric onset. As these conditions are characterized by marked clinical and genetic heterogeneity, whole-exome sequencing (WES) represents the strategy of choice for the molecular diagnosis. While its usefulness is well established in pediatric DEE cohorts, our study is aimed at assessing...

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PMID: 32725632
DOI: 10.1111/cge.13823

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