A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Marie-Laure Vuillaume^{1

2}, Médéric Jeanne^{1

2}, Li Xue³, Sophie Blesson¹, Anne-Sophie Denommé-Pichon^{4

5}, Servane Alirol², Céline Brulard^{2

6}, Estelle Colin^{4

5}, Bertrand Isidor^{7

8}, Brigitte Gilbert-Dussardier^{9

10}, Sylvie Odent^{11

12}, Philippe Parent¹³, Audrey Donnart¹⁴, Richard Redon¹⁴, Stéphane Bézieau^{7

15}, Philippe Rondard³, Frédéric Laumonnier^{1

2}, Annick Toutain^{1

2}

Affiliations

¹ Genetics Department, University Hospital Center, Tours.
² UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
³ Institute of Functional Genomics, CNRS UMR5203, INSERM U1191, Montpellier University, Montpellier.
⁴ Genetics Department.
⁵ UMR INSERM 1083 - CNRS 6015, Faculty of Medicine, Angers University, Angers, France.
⁶ Platform for Cancer Molecular Biology, University Hospital Center, Tours, France.
⁷ Genetics Department, University Hospital Center, Nantes, France.
⁸ INSERM, UMR-S 1238, Nantes University, Nantes, France.
⁹ Genetics Department, University Hospital Center, Poitiers, France.
¹⁰ EA 3808, Poitiers University, Poitiers.
¹¹ Genetics Department, University Hospital Center, Rennes, France.
¹² CNRS UMR 6290 Institute of Genetics and Development of Rennes, Faculty of Medicine, Rennes 1 University, Rennes.
¹³ Genetics Department, University Hospital Center, Brest, France.
¹⁴ INSERM, CNRS, Nantes University, University Hospital Center, Thorax Institute, Nantes, France.
¹⁵ Center for Research in Cancer and Immunology, INSERM, Angers University, Nantes University, Nantes, France.

PMID: 29369404
DOI: 10.1002/ana.25155

Free article

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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Marie-Laure Vuillaume et al. Ann Neurol. 2018 Feb.

Free article

. 2018 Feb;83(2):437-439.

doi: 10.1002/ana.25155. Epub 2018 Feb 7.

Authors

Affiliations

¹ Genetics Department, University Hospital Center, Tours.
² UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
³ Institute of Functional Genomics, CNRS UMR5203, INSERM U1191, Montpellier University, Montpellier.
⁴ Genetics Department.
⁵ UMR INSERM 1083 - CNRS 6015, Faculty of Medicine, Angers University, Angers, France.
⁶ Platform for Cancer Molecular Biology, University Hospital Center, Tours, France.
⁷ Genetics Department, University Hospital Center, Nantes, France.
⁸ INSERM, UMR-S 1238, Nantes University, Nantes, France.
⁹ Genetics Department, University Hospital Center, Poitiers, France.
¹⁰ EA 3808, Poitiers University, Poitiers.
¹¹ Genetics Department, University Hospital Center, Rennes, France.
¹² CNRS UMR 6290 Institute of Genetics and Development of Rennes, Faculty of Medicine, Rennes 1 University, Rennes.
¹³ Genetics Department, University Hospital Center, Brest, France.
¹⁴ INSERM, CNRS, Nantes University, University Hospital Center, Thorax Institute, Nantes, France.
¹⁵ Center for Research in Cancer and Immunology, INSERM, Angers University, Nantes University, Nantes, France.

PMID: 29369404
DOI: 10.1002/ana.25155

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Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".
Yoo Y, Cho J, Choi M. Yoo Y, et al. Ann Neurol. 2018 Feb;83(2):439. doi: 10.1002/ana.25154. Ann Neurol. 2018. PMID: 29377213 No abstract available.

Comment on

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M. Yoo Y, et al. Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032. Ann Neurol. 2017. PMID: 28856709

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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

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