(Q52618608)

4 May 2018

title

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). (English)

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4 May 2018

infantile epileptic encephalopathy

main subject

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1

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4 May 2018

Yoshinori Tsurusaki

8

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4 May 2018

Mitsuhiro Kato

object named as

Mitsuhiro Kato

12

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author name string

Hitoshi Osaka

2

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4 May 2018

Shirou Sugiyama

3

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4 May 2018

Kenji Kurosawa

4

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4 May 2018

Takeshi Mizuguchi

5

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4 May 2018

Kiyomi Nishiyama

6

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4 May 2018

Akira Nishimura

7

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4 May 2018

Hiroshi Doi

9

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4 May 2018

Noriko Miyake

10

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4 May 2018

Naoki Harada

11

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4 May 2018

Naomichi Matsumoto

13

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4 May 2018

language of work or name

English

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publication date

21 November 2011

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

158A

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4 May 2018

page(s)

199-205

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4 May 2018

issue

1

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4 May 2018

Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system.

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1 reference

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

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Slit proteins bind Robo receptors and have an evolutionarily conserved role in repulsive axon guidance

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The protein kinase IKKepsilon regulates energy balance in obese mice

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

21 January 2018

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The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

21 January 2018

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The F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesis

21 January 2018

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Rho GTPases and the actin cytoskeleton

21 January 2018

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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Crucial functions of the Rap1 effector molecule RAPL in lymphocyte and dendritic cell trafficking

21 January 2018

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A new paradigm for West syndrome based on molecular and cell biology

21 January 2018

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

21 January 2018

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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

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GAPs for rho-related GTPases

21 January 2018

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Vertebrate slit, a secreted ligand for the transmembrane protein roundabout, is a repellent for olfactory bulb axons

21 January 2018

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High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

21 January 2018

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Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

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

21 January 2018

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

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

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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Multiple functions of the IKK-related kinase IKKepsilon in interferon-mediated antiviral immunity

21 January 2018

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A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences

21 January 2018

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

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Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34363

Directional guidance of neuronal migration in the olfactory system by the protein Slit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34363

Regulated shuttling of Slit-Robo-GTPase activating proteins between nucleus and cytoplasm during brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34363

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34363

1 reference

4 May 2018

PubMed ID

22106086

1 reference

4 May 2018