Toward routine genetics-based diagnoses for the epileptic encephalopathies.

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Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages.

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Toward routine genetics-based diagnoses for the epileptic encephalopathies.

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2014 nî lūn-bûn

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2014年論文

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@zh-hk

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name

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

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Item

label

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

@en

prefLabel

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

@en

P1476

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

@en

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Andrew Escayg

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

Jennifer C Wong

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Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

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

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

De novo mutations in epileptic encephalopathies

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Rare copy number variants are an important cause of epileptic encephalopathies.

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

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158-160

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scholarly article

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10.5698/1535-7597-14.3.158

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English

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2014-05-01T00:00:00Z

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24940165

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4038286

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Toward routine genetics-based diagnoses for the epileptic encephalopathies.

about

P2860

P2860

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932