De novo mutations in ATP1A3 cause alternating hemiplegia of childhood, Nature Genetics, vol.56, issue.9, pp.1030-1034, 2012. ,
DOI : 10.1093/bioinformatics/btr317
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults, Brain, vol.133, issue.12, pp.3598-610, 2010. ,
DOI : 10.1093/brain/awq295
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood???a study of 155 patients, Orphanet Journal of Rare Diseases, vol.13, issue.1, p.123, 2015. ,
DOI : 10.1016/S1474-4422(14)70011-0
Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome, PEDIATRICS, vol.123, issue.3, pp.534-575, 2009. ,
DOI : 10.1542/peds.2008-2027
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study, The Lancet Neurology, vol.11, issue.9, pp.764-73, 2012. ,
DOI : 10.1016/S1474-4422(12)70182-5
Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients, PLoS ONE, vol.25, issue.2, p.56120, 2013. ,
DOI : 10.1371/journal.pone.0056120.s003
Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase, J Neurosci, vol.11, issue.2, pp.381-91, 1991. ,
Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain, The Journal of Comparative Neurology, vol.281, issue.2, pp.376-404, 2011. ,
DOI : 10.1113/jphysiol.1993.sp019540
Neurological disease mutations of ??3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function, Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol.1857, issue.11, pp.18571807-18571835, 2016. ,
DOI : 10.1016/j.bbabio.2016.08.009
Distinct neurological disorders with ATP1A3 mutations, The Lancet Neurology, vol.13, issue.5, pp.503-517, 2014. ,
DOI : 10.1016/S1474-4422(14)70011-0
A novel ATP1A3 mutation with unique clinical presentation, Journal of the Neurological Sciences, vol.341, issue.1-2, pp.133-138, 2014. ,
DOI : 10.1016/j.jns.2014.03.034
The treatment and management of alternating hemiplegia of childhood, Developmental Medicine & Child Neurology, vol.66, issue.10, pp.777-80, 2007. ,
DOI : 10.1212/WNL.42.12.2251
Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe, Journal of the Neurological Sciences, vol.344, issue.1-2, pp.37-42, 2014. ,
DOI : 10.1016/j.jns.2014.06.014
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood, JIMD Rep, vol.15, pp.7-12, 2015. ,
DOI : 10.1007/8904_2013_292
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood, Brain and Development, vol.31, issue.1, pp.20-26, 2009. ,
DOI : 10.1016/j.braindev.2008.03.008
Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na+,K+-ATPase ??3 Missense Mutant Mice, PLoS ONE, vol.290, issue.3, p.60141, 2013. ,
DOI : 10.1371/journal.pone.0060141.s015
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 ,
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency, Journal of Neurology, Neurosurgery & Psychiatry, vol.71, issue.5, pp.550-553, 2016. ,
DOI : 10.1001/jamaneurol.2014.1584
URL : https://hal.archives-ouvertes.fr/hal-01325371
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy, Molecular Genetics and Metabolism, vol.84, issue.4, pp.305-317, 2005. ,
DOI : 10.1016/j.ymgme.2004.09.007
Triheptanoin improves brain energy metabolism in patients with Huntington disease, Neurology, vol.84, issue.5, pp.490-495, 2015. ,
DOI : 10.1212/WNL.0000000000001214
Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profile, AJP: Endocrinology and Metabolism, vol.298, issue.2, pp.362-71, 2010. ,
DOI : 10.1152/ajpendo.00384.2009
Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats, AJP: Endocrinology and Metabolism, vol.291, issue.4, pp.860-866, 2006. ,
DOI : 10.1152/ajpendo.00366.2005
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride, Journal of Clinical Investigation, vol.110, issue.2, pp.259-69, 2002. ,
DOI : 10.1172/JCI0215311
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome, Pediatric Neurology, vol.23, issue.2, pp.134-175, 2000. ,
DOI : 10.1016/S0887-8994(00)00157-0
Flunarizine in Alternating Hemiplegia in Childhood. An International Study in 12 Children, Neuropediatrics, vol.18, issue.04, pp.191-196, 1987. ,
DOI : 10.1055/s-2008-1052478
Paroxysmal movement disorders: An update, Revue Neurologique, vol.172, issue.8-9, pp.8-9433, 2016. ,
DOI : 10.1016/j.neurol.2016.07.005
The Identification of the Sodium Pump, Bioscience Reports, vol.7, issue.4-5, pp.155-69, 1998. ,
DOI : 10.1113/jphysiol.1987.sp016576
Regional distribution of SGLT activity in rat brain in vivo, AJP: Cell Physiology, vol.304, issue.3, pp.240-247, 2013. ,
DOI : 10.1152/ajpcell.00317.2012
Mutation I810N in the ??3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS, Proceedings of the National Academy of Sciences, vol.21, issue.16, pp.14085-90, 2009. ,
DOI : 10.1073/pnas.85.10.3314
GLUT1 deficiency syndrome: An update, Revue Neurologique, vol.170, issue.2, pp.91-100, 2014. ,
DOI : 10.1016/j.neurol.2013.09.005
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways, Molecular Genetics and Metabolism, vol.101, issue.2-3, pp.246-52, 2010. ,
DOI : 10.1016/j.ymgme.2010.06.017