De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy (Q39081926)

8 September 2017

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy (English)

1 reference

8 September 2017

6

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1 June 2020

Mitsuhiro Kato

7

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1 June 2020

Yoshinori Tsurusaki

12

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1 June 2020

Hirotomo Saitsu

20

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1 June 2020

author name string

Hirofumi Kodera

1

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1 June 2020

Kazuyuki Nakamura

2

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1 June 2020

Hitoshi Osaka

3

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1 June 2020

Yoshihiro Maegaki

4

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1 June 2020

Kazuhiro Haginoya

5

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1 June 2020

Nobuhiko Okamoto

8

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1 June 2020

Mizue Iai

9

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1 June 2020

Yukiko Kondo

10

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1 June 2020

Kiyomi Nishiyama

11

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1 June 2020

Mitsuko Nakashima

13

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1 June 2020

Noriko Miyake

14

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1 June 2020

Kiyoshi Hayasaka

15

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1 June 2020

Kazuyuki Sugahara

16

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1 June 2020

Isao Yuasa

17

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1 June 2020

Yoshinao Wada

18

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1 June 2020

Naomichi Matsumoto

19

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1 June 2020

publication date

15 October 2013

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8 September 2017

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1 June 2020

volume

34

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1 June 2020

page(s)

1708-1714

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1 June 2020

issue

12

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Exome sequencing as a tool for Mendelian disease gene discovery

1 June 2020

cites work

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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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Genetic defects in the human glycome

21 January 2018

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Understanding human glycosylation disorders: biochemistry leads the charge

21 January 2018

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Neurology of inherited glycosylation disorders

21 January 2018

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Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

21 January 2018

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ST3GAL3 mutations impair the development of higher cognitive functions.

21 January 2018

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Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family

21 January 2018

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Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

21 January 2018

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Congenital disorders of glycosylation: a rapidly expanding disease family

21 January 2018

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Endoplasmic reticulum retention of the large splice variant of the UDP-galactose transporter is caused by a dilysine motif.

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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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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A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

21 January 2018

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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

21 January 2018

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The role of nucleotide sugar transporters in development of eukaryotes

21 January 2018

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Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

21 January 2018

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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

21 January 2018

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Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator

21 January 2018

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Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

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Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

21 January 2018

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Point mutations identified in Lec8 Chinese hamster ovary glycosylation mutants that inactivate both the UDP-galactose and CMP-sialic acid transporters

21 January 2018

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Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation

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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CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

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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Comparison of the methods for profiling glycoprotein glycans--HUPO Human Disease Glycomics/Proteome Initiative multi-institutional study

21 January 2018

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Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient

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

21 January 2018

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

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Expression of the human UDP-galactose transporter in the Golgi membranes of murine Had-1 cells that lack the endogenous transporter

21 January 2018

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What causes epileptic encephalopathy in infancy?: the answer may lie in our genes

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22446