Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAcute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.PCDH19-related epilepsy in two mosaic male patients.Genetic testing in epilepsy: what should you be doing?Genetic variations and associated pathophysiology in the management of epilepsy.PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.Genetics of epilepsy and relevance to current practice.Ideal characteristics of an antiepileptic drug: how do these impact treatment decisions for individual patients?Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Male patients affected by mosaic PCDH19 mutations: five new cases.Regulation of neural circuit formation by protocadherins.The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.Identification of four novel PCDH19 Mutations and prediction of their functional impact.Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.Pathophysiology of Trans-Synaptic Adhesion Molecules: Implications for Epilepsy
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P2860
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@ast
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@en
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@nl
type
label
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@ast
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@en
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@nl
prefLabel
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@ast
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@en
Spectrum of phenotypes in fema ...... to protocadherin 19 mutations.
@nl
P2093
P2860
P50
P1433
P1476
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
@en
P2093
Alessandra Terracciano
Bernardo Dalla Bernardina
Carla Marini
Federico Vigevano
Lucia Fusco
Raffaella Cusmai
Renzo Guerrini
P2860
P304
P356
10.1111/J.1528-1167.2011.03063.X
P577
2011-04-11T00:00:00Z