(Q45212007)

10 December 2017

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

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10 December 2017

4

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10 December 2017

21

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10 December 2017

13

Tally Lerman-Sagie

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10 December 2017

Alex S Nord

3

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

27

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

2

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Mary-Claire King

25

object named as

Mary-Claire King

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10 December 2017

12

Dorit Lev

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10 December 2017

Hirofumi Kodera

1

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10 December 2017

Ming Lee

5

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10 December 2017

Gaku Yamanaka

6

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10 December 2017

Jun Tohyama

7

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10 December 2017

Kazuyuki Nakamura

8

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10 December 2017

Eiji Nakagawa

9

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10 December 2017

Tae Ikeda

10

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10 December 2017

Bruria Ben-Zeev

11

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10 December 2017

Rachel Straussberg

14

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10 December 2017

Saori Tanabe

15

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10 December 2017

Kazutoshi Ueda

16

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10 December 2017

Masano Amamoto

17

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10 December 2017

Sayaka Ohta

18

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10 December 2017

Yutaka Nonoda

19

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10 December 2017

Kiyomi Nishiyama

20

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10 December 2017

Mitsuko Nakashima

22

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10 December 2017

Noriko Miyake

23

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10 December 2017

Kiyoshi Hayasaka

24

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10 December 2017

Naomichi Matsumoto

26

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10 December 2017

10 May 2013

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10 December 2017

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10 December 2017

54

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10 December 2017

7

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10 December 2017

1262-1269

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

10 December 2017

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A potassium channel mutation in neonatal human epilepsy

21 January 2018

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

21 January 2018

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Field guide to next-generation DNA sequencers

21 January 2018

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The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

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Microindel detection in short-read sequence data

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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CDKL5 alterations lead to early epileptic encephalopathy in both genders.

21 January 2018

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Performance comparison of benchtop high-throughput sequencing platforms

21 January 2018

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Genes of early-onset epileptic encephalopathies: from genotype to phenotype

21 January 2018

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Rare copy number variants are an important cause of epileptic encephalopathies

21 January 2018

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Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

21 January 2018

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

21 January 2018

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Epilepsy and the new cytogenetics

21 January 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

21 January 2018

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Accurate and exact CNV identification from targeted high-throughput sequence data

21 January 2018

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A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

21 January 2018

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

21 January 2018

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CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

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A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

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Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

21 January 2018

1 reference

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 January 2018

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Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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High-resolution DNA melting analysis: advancements and limitations

21 January 2018

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Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/EPI.12203

1 reference

release_473tgbn6rrgqdg6hn42j67hzei

10 December 2017

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Fatcat

https://api.fatcat.wiki/v0/release/473tgbn6rrgqdg6hn42j67hzei

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference