(Q50594407)

16 March 2018

title

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (English)

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16 March 2018

author

David F. Callen

5

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16 March 2018

Cecil Hahn

7

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Saadet Mercimek-Mahmutoglu

1

object named as

Saadet Mercimek-Mahmutoglu

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16 March 2018

Jaina Patel

2

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16 March 2018

Dawn Cordeiro

3

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16 March 2018

Stacy Hewson

4

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Elizabeth J Donner

6

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Peter Kannu

8

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16 March 2018

Jeff Kobayashi

9

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16 March 2018

Berge A Minassian

10

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Mahendranath Moharir

11

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16 March 2018

Komudi Siriwardena

12

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16 March 2018

Shelly K Weiss

13

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Rosanna Weksberg

14

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O Carter Snead

15

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publication date

25 March 2015

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16 March 2018

published in

Epilepsia

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16 March 2018

volume

56

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16 March 2018

issue

5

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16 March 2018

page(s)

707-716

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16 March 2018

Early identification of refractory epilepsy

cites work

1 reference

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

1 reference

Etiology and clinical predictors of intractable epilepsy

21 January 2018

1 reference

Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

1 reference

Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature

21 January 2018

1 reference

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

21 January 2018

1 reference

Copy number variation plays an important role in clinical epilepsy

21 January 2018

1 reference

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

21 January 2018

1 reference

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

21 January 2018

1 reference

21 January 2018

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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

21 January 2018

1 reference

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

21 January 2018

1 reference

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

1 reference

21 January 2018

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

21 January 2018

1 reference

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

21 January 2018

1 reference

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

21 January 2018

1 reference

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

21 January 2018

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 January 2018

1 reference

The genetic landscape of infantile spasms

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12954

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16 March 2018

PubMed ID

25818041

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16 March 2018