Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the...

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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François Feillet, Judith St-Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency-Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaetan Lesca, Salima El Chehadeh, Christel Thauvin-Robinet, Alice Masurel-Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean- Baptiste Rivière The American Journal of Human Genetics Volume 95, Issue 1, Pages 113-120 (July 2014) DOI: 10.1016/j.ajhg.2014.06.006 Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Transcript of Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the...

Page 1: Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François.

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life 

Julien Thevenon, Mathieu Milh, François Feillet, Judith St-Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency-Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaetan Lesca, Salima

El Chehadeh, Christel Thauvin-Robinet, Alice Masurel-Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean-Baptiste Rivière 

The American Journal of Human Genetics Volume 95, Issue 1, Pages 113-120 (July 2014)

DOI: 10.1016/j.ajhg.2014.06.006

Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Page 2: Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François.

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The American Journal of Human Genetics 2014 95, 113-120DOI: (10.1016/j.ajhg.2014.06.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Page 3: Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François.

Figure 2

The American Journal of Human Genetics 2014 95, 113-120DOI: (10.1016/j.ajhg.2014.06.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Page 4: Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Julien Thevenon, Mathieu Milh, François.

Figure 3

The American Journal of Human Genetics 2014 95, 113-120DOI: (10.1016/j.ajhg.2014.06.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions