Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

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P2860

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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type

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Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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P1476

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

@en

P2093

Katrine M Johannesen

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P2860

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

The phenotypic spectrum of SCN8A encephalopathy.

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Carbamazepine inhibition of neuronal Na+ currents: quantitative distinction from phenytoin and possible therapeutic implications.

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

P2888

s13311-015-0403-5

P304

190-191

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scholarly article

editorial

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10.1007/S13311-015-0403-5

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P478

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Rikke S Møller

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2016-01-01T00:00:00Z

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26553437

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4720666

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Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

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P2860

P2860

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932