Pcdh19 Mutations Pcdh19 돌연변이

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10.1055/s-0040-1701202

The clinical presentations, investigational studies, and management of febrile seizure plus syndrome, as well as epilepsies associated with PCDH19 mutations will be reviewed.

PCDH19 돌연변이와 관련된 간질 뿐만 아니라 열성 경련 플러스 증후군의 임상 프리젠테이션, 조사 연구 및 관리가 검토됩니다.

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10.1136/jmedgenet-2017-105235

To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.

현재까지 PCDH19 돌연변이는 수백 명의 여성에서 보고되었으며 모자이크증이 있는 10명의 모자이크 남성 간질 환자에서만 보고되었습니다.

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Dehydrogenase Mutations Flt3 Itd Mutations Trna Mutations Idh2 Mutations Kdr Mutations Tp53 Co Mutations Fbn1 Mutations Chromosomal Mutations Nod2 Mutations Targetable Mutations Tumor Mutations Actionable Mutations Tsc2 Mutations Sod1 Mutations Uncommon Mutations Filaggrin Mutations Detect Mutations Cancer Associated Mutations Bmpr2 Mutations Adaptive Mutations Jak2 Mutations Mtdna Mutations Cyp2r1 Mutations Brafv600e Mutations Oncogene Mutations Pdgfra Mutations Loss Mutations Selected Mutations Asxl3 Mutations Map2k1 Mutations Scn1a Mutations Nf1 Mutations Brca1 2 Mutations Her2 Mutations Nr5a1 Mutations Mpl Mutations Foxl2 Mutations Cdh1 Mutations Glucokinase Mutations Reversion Mutations Induced Mutations Hnf1a Mutations Mosaic Mutations Germ Line Mutations Notch1 Mutations Nras Mutations K13 Mutations Gla Mutations Frameshift Mutations Double Mutations Explore More

Pcdh19 Mutations Pcdh19 돌연변이

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Mar 23, 2023

Pcdh19 Mutations(Pcdh19 돌연변이)란 무엇입니까?

Pcdh19 Mutations Pcdh19 돌연변이 - The clinical presentations, investigational studies, and management of febrile seizure plus syndrome, as well as epilepsies associated with PCDH19 mutations will be reviewed. ^[1] To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism. ^[2]
PCDH19 돌연변이와 관련된 간질 뿐만 아니라 열성 경련 플러스 증후군의 임상 프리젠테이션, 조사 연구 및 관리가 검토됩니다. ^[1] 현재까지 PCDH19 돌연변이는 수백 명의 여성에서 보고되었으며 모자이크증이 있는 10명의 모자이크 남성 간질 환자에서만 보고되었습니다. ^[2]