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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.

Brain & development - 1 Jun 2020

Na Ji-Hoon, Shin Saeam, Yang Donghwa, Kim Borahm, Kim Heung Dong, Kim Sehee, Lee Joon-Soo, Choi Jong-Rak, Lee Seung-Tae, Kang Hoon-Chul

Abstract excerpt

BACKGROUND: Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. MATERIALS AND METHODS: Targeted gene panel sequencing was performed in 150 early...

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PMID: 32139178
DOI: 10.1016/j.braindev.2020.02.004

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