Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency
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Weber, 2008, GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak, J Clin Invest, 118, 2157, 10.1172/JCI34438
Suls, 2008, Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1, Brain, 131, 1831, 10.1093/brain/awn113
Liu, 2012, Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression, J Med Genet, 49, 79, 10.1136/jmedgenet-2011-100653
Wang, 2013, Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation, Brain Dev, 35, 664, 10.1016/j.braindev.2012.07.018
Vliet, 2012, PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions, Neurology, 79, 777, 10.1212/WNL.0b013e3182661fe3
Bruno, 2007, Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia, Neurology, 68, 1782, 10.1212/01.wnl.0000262029.91552.e0
Szczaluba, 2009, A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues, Pediatr Neurol, 41, 135, 10.1016/j.pediatrneurol.2009.02.013
Yeh, 2012, Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family, J Neurol Sci, 323, 80, 10.1016/j.jns.2012.08.015
Erro, 2014, Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification, Mov Disord, 29, 1108, 10.1002/mds.25933
Gardiner, 2015, The clinical and genetic heterogeneity of paroxysmal dyskinesias, Brain, 138, 3567, 10.1093/brain/awv310
Erro, 2014, The clinical syndrome of paroxysmal exercise-induced dystonia: diagnostic outcomes and an algorithm, Mov Disord Clin Pract, 1, 57, 10.1002/mdc3.12007
Schneider, 2009, GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias, Mov Disord, 24, 1684, 10.1002/mds.22507
Peters, 2014, ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism, Brain, 137, 2903, 10.1093/brain/awu216
Sakai, 2015, ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome, Hum Mutat, 36, 232, 10.1002/humu.22730
Haack, 2015, Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, Ann Clin Transl Neurol, 2, 492, 10.1002/acn3.189
Ferdinandusse, 2015, Clinical and biochemical characterization of four patients with mutations in ECHS1, Orphanet J Rare Dis, 10, 79, 10.1186/s13023-015-0290-1
Tetreault, 2015, Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome, Hum Genet, 134, 981, 10.1007/s00439-015-1577-y
Yamada, 2015, Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion, J Med Genet, 52, 691, 10.1136/jmedgenet-2015-103231
Peters, 2015, Metabolite studies in HIBCH and ECHS1 defects: Implications for screening, Mol Genet Metab, 115, 168, 10.1016/j.ymgme.2015.06.008
Houten, 2010, A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation, J Inherit Metab Dis, 33, 469, 10.1007/s10545-010-9061-2
Wanders, 2012, Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway, J Inherit Metab Dis, 35, 5, 10.1007/s10545-010-9236-x
Brown, 1982, Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations, Pediatrics, 70, 532, 10.1542/peds.70.4.532