Defining the phenotypic spectrum of SLC6A1 mutations (Q47189755)

11 January 2018

http://europepmc.org/abstract/MED/29315614

title

Defining the phenotypic spectrum of SLC6A1 mutations (English)

1 reference

11 January 2018

http://europepmc.org/abstract/MED/29315614

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Elena Gardella

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Amélie Piton

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Orrin Devinsky

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Jakob Christensen

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Nicola Specchio

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Pasquale Striano

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Guido Rubboli

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Rikke S Møller

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Heather C Mefford

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Alexandra Afenjar

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Gemma L Carvill

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Marina Trivisano

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Gaetan Lesca

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Cyril Mignot

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Caroline Nava

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3 June 2020

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Diane Doummar

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Tarja Linnankivi

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Anne de Saint Martin

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Jamel Chelly

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Manuela Pendziwiat

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Holly Dubbs

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Candace T Myers

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Deb K Pal

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Anna-Elina Lehesjoki

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Boris Keren

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Helenius J Schelhaas

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Judith S Verhoeven

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Elise Schaefer

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author name string

Carolina Courage

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3 June 2020

Marie-Thérèse Abi-Warde

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3 June 2020

J Lawrence Merritt

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3 June 2020

Lance H Rodan

14

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3 June 2020

Wen-Hann Tan

15

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3 June 2020

Lynne M Bird

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3 June 2020

Mark Nespeca

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Joseph G Gleeson

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Yongjin Yoo

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3 June 2020

Murim Choi

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Jong-Hee Chae

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Desiree Czapansky-Beilman

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Sara Chadwick Reichert

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Yvonne G Weber

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Sarah Hopkins

36

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3 June 2020

Jessica E Shaw

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3 June 2020

Laura Pisani

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3 June 2020

Sha Tang

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3 June 2020

Shan Tang

42

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3 June 2020

John J Millichap

44

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3 June 2020

Kathrine L Helbig

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3 June 2020

Oriano Mecarelli

47

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Ingo Helbig

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3 June 2020

language of work or name

English

0 references

publication date

8 January 2018

1 reference

11 January 2018

http://europepmc.org/abstract/MED/29315614

published in

Epilepsia

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3 June 2020

volume

59

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3 June 2020

issue

2

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3 June 2020

page(s)

389-402

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29315614%20AND%20SRC:MED&resulttype=core&format=json

SLC6A1 gene involvement in susceptibility to attention-deficit/hyperactivity disorder: A case-control study and gene-environment interaction

3 June 2020

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1 reference

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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

26 August 2018

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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

26 August 2018

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Structure, function, and plasticity of GABA transporters

26 August 2018

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GABA and Glutamate Transporters in Brain

26 August 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

26 August 2018

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

26 August 2018

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Molecular and therapeutic potential and toxicity of valproic acid

26 August 2018

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26 August 2018

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Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

26 August 2018

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Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

26 August 2018

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Crossref

https://api.crossref.org/works/10.1111%2FEPI.13986

The subcellular localization of GABA transporters and its implication for seizure management

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29315614

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/EPI.13986

1 reference

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3 June 2020

1 reference

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3 June 2020

1 reference