De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
about
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesPathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyThe SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.SCN8A mutation in a child presenting with seizures and developmental delaysStructure-based assessment of disease-related mutations in human voltage-gated sodium channels.SCN8A encephalopathy: Research progress and prospectsRemarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological ApproachMolecular subtyping and improved treatment of neurodevelopmental disease.Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgiaCardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathySodium channel subtypes are differentially localized to pre- and post-synaptic sites in rat hippocampus.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Precision medicine in genetic epilepsies: break of dawn?Recent advances in epilepsy.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Altered gene expression profile in a mouse model of SCN8A encephalopathy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsyClinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Dravet syndrome and its mimics: Beyond SCN1A.Loss-of-function variants of SCN8A in intellectual disability without seizures.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresPrecision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonusSYT1-associated neurodevelopmental disorder: a case seriesDiscovery of a Novel Na1.7 Inhibitor From Venom With Potent Analgesic Efficacy
P2860
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P2860
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
description
2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im Mai 2015 veröffentlicher wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2015/05/01)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/05/01)
@nl
наукова стаття, опублікована в травні 2015
@uk
مقالة علمية (نشرت في مايو 2015)
@ar
name
De novo gain-of-function and l ...... tual disabilities and epilepsy
@ast
De novo gain-of-function and l ...... tual disabilities and epilepsy
@en
De novo gain-of-function and l ...... tual disabilities and epilepsy
@nl
type
label
De novo gain-of-function and l ...... tual disabilities and epilepsy
@ast
De novo gain-of-function and l ...... tual disabilities and epilepsy
@en
De novo gain-of-function and l ...... tual disabilities and epilepsy
@nl
prefLabel
De novo gain-of-function and l ...... tual disabilities and epilepsy
@ast
De novo gain-of-function and l ...... tual disabilities and epilepsy
@en
De novo gain-of-function and l ...... tual disabilities and epilepsy
@nl
P2093
P2860
P921
P3181
P1476
De novo gain-of-function and l ...... tual disabilities and epilepsy
@en
P2093
Bart P. van de Warrenburg
Erik-Jan Kamsteeg
Helger G. Yntema
Jaclyn B. Walker
Joost Nicolai
Marjolein H. Willemsen
Marjolijn C. J. Jongmans
Maxime G. Blanchard
Miriam H. Meisler
Peter Praamstra
P2860
P304
P3181
P356
10.1136/JMEDGENET-2014-102813
P407
P577
2015-05-01T00:00:00Z