Exome sequencing reveals new causal mutations in children with epileptic encephalopathies (Q24604206)

GOA release 2020-03-11

antiporter activity

1 reference

GOA release 2020-03-11

Thomas J Jentsch

11

Thomas J

Jentsch

1 reference

7 November 2023

3

Tatiana M Karafet

Tatiana M

Karafet

1 reference

7 November 2023

Krishna R Veeramah

1

Krishna R

Veeramah

1 reference

7 November 2023

Laurel Johnstone

2

Laurel

Johnstone

1 reference

7 November 2023

Daniel Wolf

4

Daniel

Wolf

1 reference

7 November 2023

Ryan Sprissler

5

Ryan

Sprissler

1 reference

7 November 2023

John Salogiannis

6

John

Salogiannis

1 reference

7 November 2023

Asa Barth-Maron

7

Asa

Barth-Maron

1 reference

7 November 2023

Michael E Greenberg

8

Michael E

Greenberg

1 reference

7 November 2023

Till Stuhlmann

9

Till

Stuhlmann

1 reference

7 November 2023

Stefanie Weinert

10

Stefanie

Weinert

1 reference

7 November 2023

Marjorie Pazzi

12

Marjorie

Pazzi

1 reference

7 November 2023

Linda L Restifo

13

Linda L

Restifo

1 reference

7 November 2023

Dinesh Talwar

14

Dinesh

Talwar

1 reference

7 November 2023

Robert P Erickson

15

Robert P

Erickson

1 reference

7 November 2023

Michael F Hammer

16

Michael F

Rate of de novo mutations and the importance of father's age to disease risk

Hammer

1 reference

7 November 2023

language of work or name

English

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publication date

July 2013

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published in

Epilepsia

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volume

54

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issue

7

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page(s)

1270-81

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cites work

1 reference

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

7 April 2017

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7 April 2017

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7 April 2017

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SCN1A mutations and epilepsy

7 April 2017

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7 April 2017

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 April 2017

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

7 April 2017

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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

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inferred from DOI database lookup

Identifiers

DOI

10.1111/EPI.12201

1 reference

1107126

1107126

1 reference

1 reference

1 reference