Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype
Mutations in GABA<sub>A</sub> receptor subunit genes (<i>GABRs</i>) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in <i>GABRG2</i> and updates the pathophysiology and treatment de...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-08-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/23/17/9683 |