about
Targeted Treatment in Childhood Epilepsy SyndromesNeonatal Seizures: Impact on Neurodevelopmental OutcomesKCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal NeuronsA Clinician's perspective on clinical exome sequencing.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.The role of genetic testing in epilepsy diagnosis and management.Profile of neonatal epilepsies: Characteristics of a prospective US cohort.Genetics of Epilepsy in Clinical Practice.A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Recent Advances in Neonatal Seizures.Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
P2860
Q26751431-3626504A-3CED-446B-B762-6B60BC423B5DQ26774470-81E1269A-B4D4-40C7-855A-D7A5FCB7672AQ37197859-C5455D33-8992-4DBC-AC75-E4A909D27E93Q37592170-2976C3A4-868B-49C9-B45D-1B5FBBCB10CCQ38820327-15E34973-B2C9-44E5-B58A-A2113BC34589Q38990891-5A03BACC-4E40-4A2E-A910-487BC597A97AQ39084353-B0B7BACB-1BA8-4A5E-8DE4-0042F8AEB502Q39136036-F60ABD77-CC22-4C96-9CAE-DCFCCDC727AFQ39172712-8321E067-2734-440F-84DD-A18BDF806287Q39332606-00AF5B18-F41B-425A-A348-D0A5A671B60FQ40112816-51640701-033E-4241-B3DA-A537690C5EC9Q40597290-24A5897A-3B99-4BED-AC38-DC5A92F7D32DQ42293521-35F7A189-BA4E-4A51-B1E0-431274FD8057Q45072740-DF76841C-D697-4FCC-9B59-81CABEC29CEEQ45092717-E212E2C0-FF36-47DC-8FD6-A6C34A2296B5Q47136304-8A2612C8-1599-4D74-B459-405853B16224Q47764737-D8811C02-954F-44CB-988A-22A9961B2EA9Q47968759-63A46CD8-22BF-4716-8C05-E4E33933C2C6Q48150747-7B4C0DD1-9186-433A-BEA0-F57176C304D7Q48333941-F69775EA-F980-4690-93A1-9904D2C22EEFQ50901686-9F86A51C-483E-4A69-A69F-B8EB566D3634Q52592806-D21ACE98-5944-44E2-9695-F4AA00C54EC8Q53834447-5AAFB8AB-67A5-45B3-83BC-2C18D37EA343
P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Early and effective treatment of KCNQ2 encephalopathy.
@en
type
label
Early and effective treatment of KCNQ2 encephalopathy.
@en
prefLabel
Early and effective treatment of KCNQ2 encephalopathy.
@en
P2093
P2860
P50
P356
P1433
P1476
Early and effective treatment of KCNQ2 encephalopathy
@en
P2093
Barbara Podesta
Carla Marini
Kevin A Shapiro
Marco Angriman
Maria Roberta Cilio
Renzo Guerrini
Ronald L Thibert
Sinéad B Heavin
P2860
P304
P356
10.1111/EPI.12984
P577
2015-04-16T00:00:00Z