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- W3010802634 endingPage "185" @default.
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- W3010802634 abstract "<ns4:p>Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing. In this review, we discuss the major advances in epilepsy genomics that have surfaced in recent years. The goal of this review is to reach a larger audience and build a better understanding of pathogenesis and genetic testing options in DEE.</ns4:p>" @default.
- W3010802634 created "2020-03-23" @default.
- W3010802634 creator A5033872267 @default.
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- W3010802634 date "2020-03-12" @default.
- W3010802634 modified "2023-10-14" @default.
- W3010802634 title "Recent advances in epilepsy genomics and genetic testing" @default.
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- W3010802634 doi "https://doi.org/10.12688/f1000research.21366.1" @default.
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