De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

P2860

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P2860

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

@zh-cn

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

@en

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

@nl

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

@en

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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P1476

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

@en

P2093

Andrew Escayg

http://www.w3.org/2001/XMLSchema#string

Cristina da Silva

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James D Weisfeld-Adams

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John J Alexander

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Kameryn M Butler

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Madhuri Hegde

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Yuval Shafir

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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

De novo mutations in epileptic encephalopathies

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

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

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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17-25

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scholarly article

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10.1016/J.EPLEPSYRES.2016.11.002

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129

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P577

2016-11-06T00:00:00Z

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P698

27875746

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P932

5321682

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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P2860

P2860

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932