Identification of novel and <i>de novo GABRB1</i> mutation in Chinese patient with developmental and epileptic encephalopathy 45
Shanshan Zhang,
Yu Wang,
Meilin Liu
et al.
Abstract:DEE45, GABRB1, de novo mutation, developmental delay, epilepsy of infancy, electroencephalography Developmental and epileptic encephalopathy 45 (DEE45) is an autosomal dominant disease caused by variation in the gamma-aminobutyric acid type A receptor subunit beta 1 (GABRB1) gene. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurological deficits. However, DEE45 is rare; only four infants with DEE45 have been reported worldwide and no case has been repor… Show more
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