Article
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert review of molecular diagnostics - 1 Jan 2023
Veltra Danai, Tilemis Faidon-Nikolaos, Marinakis Nikolaos M, Svingou Maria, Mitrakos Anastasios, Kosma Konstantina, Tsoutsou Irene, Makrythanasis Periklis, Theodorou Virginia, Katsalouli Marina, Vorgia Pelagia, Niotakis Georgios, Vartzelis Georgios, Dinopoulos Argirios, Evangeliou Athanasios, Mouskou Stella, Korona Anastasia, Mastroyianni Sotiria, Papavasiliou Antigone, Tzetis Maria, Pons Roser, Traeger-Synodinos Joanne, Sofocleous Christalena
Abstract excerpt
OBJECTIVES: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations...
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