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Focal epilepsy with earlier onset (median age 4 months) and severe ID were associated with variants in both the pore-lining helical transmembrane domain and the extracellular domain. These genotype-phenotype correlations will aid the genetic counseling and treatment of individuals affected by GABRB3-related disorders. Future studies may reveal whether functional differences underlie the phenotypic differences. These genotype-phenotype correlations will aid the genetic counseling and treatment of individuals affected by GABRB3-related dis
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