Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
about
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceAdvancing epilepsy genetics in the genomic eraEpileptic encephalopathies: new genes and new pathwaysDe novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyGain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophyPathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyConvulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.SCN8A mutation in a child presenting with seizures and developmental delaysSCN8A encephalopathy: Research progress and prospectsThe phenotypic spectrum of SCN8A encephalopathy.SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresA roadmap for precision medicine in the epilepsies.Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological ApproachSpectrum of SCN8A-Related Epilepsy.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Genotype phenotype associations across the voltage-gated sodium channel family.Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.The genetics of the epilepsies.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Precision medicine in genetic epilepsies: break of dawn?SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Stiripentol in the Management of Epilepsy.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresPrecision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Recent Advances in Neonatal Seizures.Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
P2860
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P2860
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@en
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@nl
type
label
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@en
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@nl
prefLabel
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@en
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@nl
P2093
P2860
P50
P356
P1433
P1476
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
@en
P2093
Akihiko Tateno
Chihiro Ohba
Dafna Marom
Fumiaki Tanaka
Hadassa Goldberg-Stern
Hiroshi Terashima
Hisashi Kawawaki
Kiyomi Nishiyama
Masaya Kubota
P2860
P304
P356
10.1111/EPI.12668
P50
P577
2014-06-02T00:00:00Z