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Hyperthermic Seizure Susceptibility and Focal Decreases in Parvalbumin-Expressing Cortical Interneurons in a Mouse Model of PCDH19-Clustering Epilepsy.
Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
🥉 Relato de casoPhenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.
Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsy.