A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
Abstract Background Variants in the GABRA2 gene, which encodes the α2 subunit of the γ‐aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clin...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.52262 |
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