Early Onset Epileptic and Developmental Encephalopathy and MOGS Variants: a New Diagnosis in the Whole Exome Sequencing (WES) ERA

Federica Teutonico,Clara Volpe,Alice Proto, Ilaria Costi,Ugo Cavallari,Paola Doneda,Maria Iascone,Luisella Sturiale,Rita Barone,Stefano Martinelli,Aglaia Vignoli

NEUROGENETICS（2024）

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MOGS,CDG-IIb,Congenital disorders of glycosylation,Early infantile Developmental and Epileptic Encephalopathy (EI-DEE),Spasms,Burst suppression,Hypotonia

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