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Article

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2020

Isik Esra, Yilmaz Sanem, Atik Tahir, Aktan Gul, Onay Huseyin, Gokben Sarenur, Ozkinay Ferda

Abstract excerpt

AIM: Developmental and epileptic encephalopathies (DEEs) are a group of devastating disorders caused by epileptic activity, resulting in deterioration in developmental, cognitive, and motor functions. The number of genes identified as being responsible for DEEs has been increasing rapidly. However, despite a comprehensive molecular analysis, a molecular diagnosis can only be established in 50% of cases. The aim...

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PMID: 32705489
DOI: 10.1007/s10072-020-04619-8

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