about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryAdvancing epilepsy genetics in the genomic eraMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsDe 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 delaysGenetic basis of pediatric epilepsy syndromes.SCN8A encephalopathy: Research progress and prospectsSCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresRemarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological ApproachSpectrum of SCN8A-Related Epilepsy.Molecular subtyping and improved treatment of neurodevelopmental disease.Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?Recent advances in genetics of choreaSingle amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathyUnexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.The genetics of the epilepsies.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.The contribution of next generation sequencing to epilepsy genetics.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Role of Sodium Channels in Epilepsy.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.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.Altered gene expression profile in a mouse model of SCN8A encephalopathy.The role of genetic testing in epilepsy diagnosis and management.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Dravet syndrome and its mimics: Beyond SCN1A.Genetics of Epilepsy in Clinical Practice.Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotypeSCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
P2860
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P2860
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
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
The phenotypic spectrum of SCN8A encephalopathy.
@ast
The phenotypic spectrum of SCN8A encephalopathy.
@en
type
label
The phenotypic spectrum of SCN8A encephalopathy.
@ast
The phenotypic spectrum of SCN8A encephalopathy.
@en
prefLabel
The phenotypic spectrum of SCN8A encephalopathy.
@ast
The phenotypic spectrum of SCN8A encephalopathy.
@en
P2093
P2860
P50
P1433
P1476
The phenotypic spectrum of SCN8A encephalopathy.
@en
P2093
Andrea Bevot
Birgit Jepsen
Bobby Koeleman
Carla Marini
Carolien G F de Kovel
Christel Depienne
David Goudie
EuroEPINOMICS RES Consortium CRP
Eva Brilstra
Gemma L Carvill
P2860
P304
P356
10.1212/WNL.0000000000001211
P407
P50
P577
2015-01-07T00:00:00Z