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Ketogenic diet treatment for pediatric super-refractory status epilepticus.

Appavu(Brian),Vanatta(Lisa),Condie(John),K... Seizure 0000-00-00

...PCDH19 and GABRG2 genetic epilepsy, New Onset Refractory Status Epilepticus, and Febrile Infection-Related Epilepsy Synd...

The Clinical Spectrum of Female Epilepsy Patients with PCDH19 Mutations in a ...

Liu(Aijie),Xu(Xiaojing),Yang(Xiaoling),Jia... Clin Genet 0000-00-00

...PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed as Dravet Syndrome (DS)...

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Xue(Jiao),Li(Hui),Zhang(Yuehua),Yang(Zhixian) Brain Dev 0000-00-00

...PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to f...

A chromosome 16p13.11 microduplication causes hyperactivity through dysregula...

Fujitani(M),Zhang(S),Fujiki(R),Fujihara(Y)... Mol Psychiatry 0000-00-00

...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 and Dravet Syndrome: Face-off between two early-onset...

Trivisano(Marina),Pietrafusa(Nicola),Ciomm... Epilepsy Res 0000-00-00

...PCDH19-related epilepsy. Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. ...

Structural determinants of adhesion by Protocadherin-19 and implications for ...

Cooper(Sharon R),Jontes(James D),Sotomayor... Elife 0000-00-00

...PCDH19-FE). Over 100 mutations in have been identified in patients with PCDH19-FE, about half of which are missense mut...

Targeted next generation sequencing: the diagnostic value in early-onset epil...

Gokben(Sarenur),Onay(Huseyin),Yilmaz(Sanem... Acta Neurol Belg 0000-00-00

...PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in...

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Ep...

Segal(Eric),Pedro(Helio),Valdez-Gonzalez(K... Pediatr Neurol 0000-00-00

...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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