0000000000422457
AUTHOR
Karl Martin Klein
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…
Ictal functional TCD for the lateralization of the seizure onset zone—a report of two cases
Ictal functional transcranial Doppler sonography (I-fTCD) was used to lateralize the ictal onset zone in the presurgical evaluation of two patients with temporal lobe epilepsy. In one patient, I-fTCD and ictal SPECT were performed simultaneously during EEG-monitoring. In both patients, results were concordant with the ictal SPECT findings, PET and semiology. I-fTCD seems to be an interesting new method to non-invasively lateralize the seizure onset zone with high temporal resolution. I-fTCD and SPECT may give complementary information to lateralize the seizure onset zone.