...PCDH19 and GABRG2 genetic epilepsy, New Onset Refractory Status Epilepticus, and Febrile Infection-Related Epilepsy Synd...
...PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed as Dravet Syndrome (DS)...
...PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to f...
...Pcdh19) as a target of miR-484. The effect of miR-484 on neurogenesis was rescued by ectopic PCDH19 expression. These re...
...PCDH19-related epilepsy. Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. ...
...PCDH19-FE). Over 100 mutations in have been identified in patients with PCDH19-FE, about half of which are missense mut...
...PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in...
...PCDH19 gene in two subjects, and in DLG3, MECP2, TSC2, and SLC9A6 genes in one subject each. Only the MECP2 mutation was...
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