SCN8A encephalopathy: Research progress and prospects - Wikidata - awgldk - TriplyDB

SCN8A encephalopathy: Research progress and prospects

SCN8A encephalopathy: Research progress and prospects

http://www.wikidata.org/entity/Q33866136

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The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.SCN8A mutation in a child presenting with seizures and developmental delays Epileptic Encephalopathy in Infants and Children DNM1 encephalopathy: A new disease of vesicle fission.Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Altered gene expression profile in a mouse model of SCN8A encephalopathy.Loss-of-function variants of SCN8A in intellectual disability without seizures.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures Cannabidiol Mellows Out Resurgent Sodium Current Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.Regulation of Thalamic and Cortical Network Synchrony by Scn8a.De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain.Phenytoin as a last-resort treatment in SCN8A encephalopathy.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

P2860

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P2860

SCN8A encephalopathy: Research progress and prospects

http://www.wikidata.org/entity/Q33866136

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2016 nî lūn-bûn

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2016 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2016 թվականի հունիսին հրատարակված գիտական հոդված

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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SCN8A encephalopathy: Research progress and prospects

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Alan L Goldin

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Atsushi Ishii

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Barbara L Kroner

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Brandy E Fureman

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Heather C Mefford

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Jack M Parent

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Jacy L Wagnon

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Karen Wilcox

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Manoj Patel

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P2860

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

De novo mutations in epileptic encephalopathies

Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

Late Sodium Current in Human Atrial Cardiomyocytes from Patients in Sinus Rhythm and Atrial Fibrillation

A method and server for predicting damaging missense mutations

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

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1027-1035

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scholarly article

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10.1111/EPI.13422

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57

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Ingrid Scheffer

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