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Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.

Brain & development - 1 Jun 2023

Hanafusa Hiroaki, Yamaguchi Hiroshi, Kondo Hidehito, Nagasaka Miwako, Juan Ye Ming, Oikawa Shizuka, Tokumoto Shoichi, Tomioka Kazumi, Nishiyama Masahiro, Morisada Naoya, Matsuo Masafumi, Nozu Kandai, Nagase Hiroaki

Abstract excerpt

OBJECTIVE: Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However, its pathogenesis remains unclear. In the present study, a genetic analysis was performed to determine the genetic background of patients with clinically suspected Dravet syndrome (DS) who developed HSES. METHODS: Whole exome sequencing was...

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PMID: 36774261
DOI: 10.1016/j.braindev.2023.01.008

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