(Q41933721)

14 October 2017

title

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (English)

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14 October 2017

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9

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14 October 2017

Hirotomo Saitsu

1

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

2

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author name string

Hitoshi Osaka

3

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14 October 2017

Nobuko Moriyama

4

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14 October 2017

Hideki Horita

5

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14 October 2017

Kiyomi Nishiyama

6

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14 October 2017

Yuriko Yoneda

7

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14 October 2017

Yukiko Kondo

8

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14 October 2017

Hiroshi Doi

10

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14 October 2017

Noriko Miyake

11

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14 October 2017

Kiyoshi Hayasaka

12

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14 October 2017

Naomichi Matsumoto

13

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14 October 2017

publication date

18 June 2012

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14 October 2017

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14 October 2017

volume

53

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14 October 2017

issue

8

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14 October 2017

page(s)

1441-1449

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Deletion of CASK in mice is lethal and impairs synaptic function

14 October 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

The role of the MAGUK protein CASK in neural development and synaptic function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Frameshift mutations of the ARX gene in familial Ohtahara syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Murine CASK is disrupted in a sex-linked cleft palate mouse mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Phenotypic spectrum associated with CASK loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

A missense mutation in CASK causes FG syndrome in an Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03548.X

10.1111/J.1528-1167.2012.03548.X

21 January 2018

Identifiers

DOI

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14 October 2017

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