Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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http://www.wikidata.org/entity/Q56349519

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im Juli 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

@en

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

@nl

P1476

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

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P2093

Bryan S Barker

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Eric R Wengert

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Jacy L Wagnon

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Manoj K Patel

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Miriam H Meisler

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Miryam Carecchio

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Niccolò E Mencacci

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Nicholas W Wood

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P2860

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

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

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

A general framework for estimating the relative pathogenicity of human genetic variants

SCN8A encephalopathy: Research progress and prospects

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.

Metabolic changes in DYT11 myoclonus-dystonia.

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.

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965-969

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P31

scholarly article

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10.1002/HUMU.23547

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P407

English

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P478

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Kailash Phatechand Bhatia

Bettina Balint

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2018-07-01T00:00:00Z

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29726066

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6032947

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