A. T. Berg, S. F. Berkovic, M. J. Brodie, J. Buchhalter, J. H. Cross et al., Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, Epilepsia, vol.51, pp.2005-2009, 2010.

A. Covanis, Epileptic encephalopathies (including severe epilepsy syndromes), Epilepsia, vol.46, issue.Suppl. 3, pp.114-126, 2012.
DOI : 10.1016/j.pediatrneurol.2011.04.010
URL : http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2012.03621.x/pdf

A. T. Berg, K. Nickels, E. C. Wirrell, A. T. Geerts, P. M. Callenbach et al., Mortality Risks in New-Onset Childhood Epilepsy, PEDIATRICS, vol.132, issue.1, pp.124-131, 2013.
DOI : 10.1542/peds.2012-3998
URL : http://pediatrics.aappublications.org/content/pediatrics/132/1/124.full.pdf

I. Helbig and D. H. Lowenstein, Genetics of the epilepsies, Current Opinion in Neurology, vol.26, issue.2, pp.179-185, 2013.
DOI : 10.1097/WCO.0b013e32835ee6ff

G. L. Carvill, S. B. Heavin, S. C. Yendle, J. M. Mcmahon, B. J. O-'roak et al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1, Nature Genetics, vol.45, issue.7, pp.825-830, 2013.
DOI : 10.1371/journal.pgen.1000962

A. S. Allen, S. F. Berkovic, P. Cossette, N. Delanty, D. Dlugos et al., Consortium De novo mutations in epileptic encephalopathies, Epi4KGenome Project Nature, vol.501, pp.217-221, 2013.
DOI : 10.1038/nature12439
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011/pdf

A. Mckenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis et al., The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data, Genome Research, vol.20, issue.9, pp.1297-1303, 2010.
DOI : 10.1101/gr.107524.110

S. B. Ng, K. J. Buckingham, C. Lee, A. W. Bigham, H. K. Tabor et al., Exome sequencing identifies the cause of a mendelian disorder, Nature Genetics, vol.137, issue.1, pp.30-35, 2010.
DOI : 10.1101/gr.078212.108

A. M. Pajor, Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family. Pflügers Arch, pp.119-130, 2014.
DOI : 10.1007/s00424-013-1369-y

G. M. Cooper, D. L. Goode, S. B. Ng, A. Sidow, M. J. Bamshad et al., Single-nucleotide evolutionary constraint scores highlight disease-causing mutations, Nature Methods, vol.3, issue.4, pp.250-251, 2010.
DOI : 10.1038/nmeth0410-250
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145250/pdf

R. Grantham, Amino Acid Difference Formula to Help Explain Protein Evolution, Science, vol.185, issue.4154, pp.862-864, 1974.
DOI : 10.1126/science.185.4154.862

I. A. Adzhubei, S. Schmidt, L. Peshkin, V. E. Ramensky, A. Gerasimova et al., A method and server for predicting damaging missense mutations, Nature Methods, vol.7, issue.4, pp.248-249, 2010.
DOI : 10.1038/nmeth0410-248
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2855889/pdf

M. Kircher, D. M. Witten, P. Jain, B. J. O-'roak, G. M. Cooper et al., A general framework for estimating the relative pathogenicity of human genetic variants, Nature Genetics, vol.17, issue.3, pp.310-315, 2014.
DOI : 10.1002/humu.21517

R. Mancusso, G. G. Gregorio, Q. Liu, W. , and D. , Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter, Nature, vol.67, issue.7425, pp.622-626, 2012.
DOI : 10.1107/S0907444910045749

K. Inoue, Y. Fei, L. Zhuang, E. Gopal, S. Miyauchi et al., Functional features and genomic organization of mouse NaCT, a sodium-coupled transporter for tricarboxylic acid cycle intermediates, Biochemical Journal, vol.378, issue.3, pp.949-957, 2004.
DOI : 10.1042/bj20031261

A. M. Pajor, /dicarboxylate Co-transporter, Journal of Biological Chemistry, vol.1511, issue.32, pp.29961-29968, 2001.
DOI : 10.1016/S0005-2736(00)00385-0

E. Gopal, S. Miyauchi, P. M. Martin, S. Ananth, S. R. Srinivas et al., Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines, AJP: Gastrointestinal and Liver Physiology, vol.292, issue.1, pp.402-408, 2007.
DOI : 10.1152/ajpgi.00371.2006

B. Nota, E. A. Struys, A. Pop, E. E. Jansen, F. Ojeda et al., Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria, The American Journal of Human Genetics, vol.92, issue.4, pp.627-631, 2013.
DOI : 10.1016/j.ajhg.2013.03.009

F. Molinari, A. Raas-rothschild, M. Rio, G. Fiermonte, F. Encha-razavi et al., Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy, The American Journal of Human Genetics, vol.76, issue.2, pp.334-339, 2005.
DOI : 10.1086/427564
URL : https://doi.org/10.1086/427564

E. Girardi, L. Arnaiz, and G. R. , Citrate synthase activity increases in homogenates of the cerebral cortex from rats treated with the convulsant 3-mercaptopropionic acid, Neurochemistry International, vol.7, issue.4, pp.683-688, 1985.
DOI : 10.1016/0197-0186(85)90066-X

A. L. Birkenfeld, H. Lee, F. Guebre-egziabher, T. C. Alves, M. J. Jurczak et al., Deletion of the Mammalian INDY Homolog Mimics Aspects of Dietary Restriction and Protects against Adiposity and Insulin Resistance in Mice, Cell Metabolism, vol.14, issue.2, pp.184-195, 2011.
DOI : 10.1016/j.cmet.2011.06.009

M. J. Bergeron, B. Clémençon, M. A. Hediger, and D. Markovich, SLC13 family of Na+-coupled di- and tri-carboxylate/sulfate transporters, Molecular Aspects of Medicine, vol.34, issue.2-3, pp.299-312, 2013.
DOI : 10.1016/j.mam.2012.12.001

H. Saitsu, M. Kato, T. Mizuguchi, K. Hamada, H. Osaka et al., De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Nature Genetics, vol.18, issue.6, pp.782-788, 2008.
DOI : 10.1093/emboj/18.16.4372

S. Weckhuysen, V. Ivanovic, R. Hendrickx, R. Van-coster, H. Hjalgrim et al., Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients, Neurology, vol.81, issue.19, pp.1697-1703, 2013.
DOI : 10.1212/01.wnl.0000435296.72400.a1

G. Barcia, M. R. Fleming, A. Deligniere, V. Gazula, M. R. Brown et al., De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy, Nature Genetics, vol.4, issue.11, pp.1255-1259, 2012.
DOI : 10.1097/00001756-200211150-00017

M. Milh, N. Villeneuve, M. Chouchane, A. Kaminska, C. Laroche et al., Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations, Epilepsia, vol.51, issue.10, pp.1828-1834, 2011.
DOI : 10.1111/j.1528-1167.2010.02728.x
URL : https://hal.archives-ouvertes.fr/hal-01668681

M. Milh, N. Boutry-kryza, J. Sutera-sardo, C. Mignot, S. Auvin et al., Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.80, 2013.
DOI : 10.1073/pnas.1216867110
URL : https://hal.archives-ouvertes.fr/inserm-00829466

S. Kovac, A. Y. Abramov, and M. C. Walker, Energy depletion in seizures: Anaplerosis as a strategy for future therapies, Neuropharmacology, vol.69, pp.96-104, 2013.
DOI : 10.1016/j.neuropharm.2012.05.012

K. Borges and U. Sonnewald, Triheptanoin???A medium chain triglyceride with odd chain fatty acids: A new anaplerotic anticonvulsant treatment?, Epilepsy Research, vol.100, issue.3, pp.239-244, 2012.
DOI : 10.1016/j.eplepsyres.2011.05.023