Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
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Neurosteroid-sensitive δ-GABAA receptors: A role in epileptogenesis?Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).Differential interactions engendered by benzodiazepine and neuroactive steroid combinations on schedule-controlled responding in rats.Neurosteroid Deficiency Associated With Epilepsy.Sex differences in the anticonvulsant activity of neurosteroidsMale patients affected by mosaic PCDH19 mutations: five new cases.Regulation of neural circuit formation by protocadherins.Immunomodulatory Properties of Induced Pluripotent Stem Cell-Derived Mesenchymal Cells.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.The female epilepsy protein PCDH19 is a new GABAAR binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.GABA type a receptor trafficking and the architecture of synaptic inhibition.Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.Neurosteroid regulation of GABA receptors: A role in catamenial epilepsy
P2860
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P2860
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
description
2015 nî lūn-bûn
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2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@ast
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@en
Mutations of protocadherin 19 in female epilepsy
@nl
type
label
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@ast
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@en
Mutations of protocadherin 19 in female epilepsy
@nl
prefLabel
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@ast
Mutations of protocadherin 19 ...... o allopregnanolone deficiency.
@en
Mutations of protocadherin 19 in female epilepsy
@nl
P2093
P2860
P50
P356
P1476
Mutations of protocadherin 19 ...... to allopregnanolone deficiency
@en
P2093
Carla Marini
Chloe Shard
Christel Depienne
Enzo Ranieri
Evelyn Douglas
Grant Buchanan
Ingrid E Scheffer
Jacinta Mcmahon
P2860
P304
P356
10.1093/HMG/DDV245
P50
P577
2015-06-29T00:00:00Z