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Article

GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.

Epileptic disorders : international epilepsy journal with videotape - 1 Dec 2023

Monfrini Edoardo, Borellini Linda, Zirone Eleonora, Yahya Vidal, Mauri Eleonora, Molisso Maria Takeko, Mameli Francesca, Ruggiero Fabiana, Comi Giacomo Pietro, Barbieri Sergio, Di Fonzo Alessio, Dilena Robertino

Abstract excerpt

Developmental and epileptic encephalopathy 45 (DEE45) is a neurogenetic disorder caused by heterozygous pathogenic variants of GABRB1, encoding the beta1 subunit of the GABA type A receptor. Only three infants with DEE45 have been reported so far, and a detailed description of the disease history of these patients is still lacking. We describe the clinical and genetic findings of a 21-year-old woman with DEE45...

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Brain Diseases
Electroencephalography
Epilepsy
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, GABA-A

Spasms, Infantile

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PMID: 37518907
DOI: 10.1002/epd2.20132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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