(Q34777802)

4 August 2017

title

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

1 reference

infantile epileptic encephalopathy

4 August 2017

main subject

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16

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4 August 2017

Hirotomo Saitsu

1

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Mitsuhiro Kato

object named as

Mitsuhiro Kato

2

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author name string

Takeshi Mizuguchi

3

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4 August 2017

Keisuke Hamada

4

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4 August 2017

Hitoshi Osaka

5

1 reference

4 August 2017

Jun Tohyama

6

1 reference

4 August 2017

Katsuhisa Uruno

7

1 reference

4 August 2017

Satoko Kumada

8

1 reference

4 August 2017

Kiyomi Nishiyama

9

1 reference

4 August 2017

Akira Nishimura

10

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4 August 2017

Ippei Okada

11

1 reference

4 August 2017

Yukiko Yoshimura

12

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4 August 2017

Syu-ichi Hirai

13

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4 August 2017

Tatsuro Kumada

14

1 reference

4 August 2017

Kiyoshi Hayasaka

15

1 reference

4 August 2017

Kazuhiro Ogata

17

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4 August 2017

Naomichi Matsumoto

18

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4 August 2017

language of work or name

English

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publication date

11 May 2008

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4 August 2017

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4 August 2017

volume

40

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4 August 2017

issue

6

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4 August 2017

page(s)

782-788

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https://scigraph.springernature.com/pub.10.1038/ng.150

4 August 2017

exact match

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cites work

Synaptic assembly of the brain in the absence of neurotransmitter secretion

1 reference

Mutations in the Drosophila Rop gene suggest a function in general secretion and synaptic transmission

21 January 2018

1 reference

Defects in synaptic vesicle docking in unc-18 mutants

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Identification of disease genes by whole genome CGH arrays

21 January 2018

1 reference

Structural variants: changing the landscape of chromosomes and design of disease studies

21 January 2018

1 reference

A rat brain Sec1 homologue related to Rop and UNC18 interacts with syntaxin

21 January 2018

1 reference

Expression of p67 (Munc-18) in adult human brain and neuroectodermal tumors of human central nervous system.

21 January 2018

1 reference

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

21 January 2018

1 reference

Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex

21 January 2018

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Munc18-1 binds directly to the neuronal SNARE complex

21 January 2018

1 reference

Munc18-1 in secretion: lonely Munc joins SNARE team and takes control.

21 January 2018

1 reference

Functionally and spatially distinct modes of munc18-syntaxin 1 interaction

21 January 2018

1 reference

Selective activation of cognate SNAREpins by Sec1/Munc18 proteins

21 January 2018

1 reference

Synaptic vesicle docking: a putative role for the Munc18/Sec1 protein family

21 January 2018

1 reference

The synaptic vesicle cycle

21 January 2018

1 reference

Snares and Munc18 in synaptic vesicle fusion

21 January 2018

1 reference

Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin

21 January 2018

1 reference

New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation

21 January 2018

1 reference

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

21 January 2018

1 reference

Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size

21 January 2018

1 reference

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

21 January 2018

1 reference

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

21 January 2018

1 reference

A conformational switch in syntaxin during exocytosis: role of munc18.

21 January 2018

1 reference

Polyalanine expansion of ARX associated with cryptogenic West syndrome

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Calculation of protein conformation from circular dichroism

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.150

1 reference

4 August 2017

1 reference