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Volumn 95, Issue 1, 2014, Pages 113-120

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of Life

(30)  Thevenon, Julien a,b   Milh, Mathieu c,d   Feillet, François e   St Onge, Judith a,b   Duffourd, Yannis a,b   Jugé, Clara b   Roubertie, Agathe f,g   Héron, Delphine h   Mignot, Cyril h   Raffo, Emmanuel i   Isidor, Bertrand j   Wahlen, Sandra h   Sanlaville, Damien k,l   Villeneuve, Nathalie c,m   Darmency Stamboul, Véronique n   Toutain, Annick o   Lefebvre, Mathilde a   Chouchane, Mondher a   Huet, Frédéric a   Lafon, Arnaud a   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; DISEASE ASSOCIATION; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SLC13A5 GENE; BRAIN DISEASE; COMPLICATION; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; RECESSIVE GENE; SEIZURES; APGAR SCORE; AUTISM; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CYANOSIS; CYTOSOL; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; EXON; EYE MOVEMENT DISORDER; FOCAL EPILEPSY; GENETIC ASSOCIATION; HETEROZYGOTE; HYPODONTIA; LENNOX GASTAUT SYNDROME; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEONATAL MULTIFOCAL STATUS EPILEPTICUS; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TENDON REFLEX;

EID: 84903991624     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.06.006     Document Type: Article
Times cited : (107)

References (32)
  • 1
    • 0034861404 scopus 로고    scopus 로고
    • Epileptic encephalopathy
    • DOI 10.1046/j.1528-1157.2001.042Suppl.3023.x
    • O. Dulac Epileptic encephalopathy Epilepsia 42 Suppl 3 2001 23 26 (Pubitemid 32782651)
    • (2001) Epilepsia , vol.42 , Issue.SUPPL.. 3 , pp. 23-26
    • Dulac, O.1
  • 2
  • 3
    • 84865775787 scopus 로고    scopus 로고
    • Epileptic encephalopathies (including severe epilepsy syndromes)
    • A. Covanis Epileptic encephalopathies (including severe epilepsy syndromes) Epilepsia 53 Suppl 4 2012 114 126
    • (2012) Epilepsia , vol.53 , Issue.SUPPL. 4 , pp. 114-126
    • Covanis, A.1
  • 5
    • 84874940821 scopus 로고    scopus 로고
    • Genetics of the epilepsies: Where are we and where are we going?
    • I. Helbig, and D.H. Lowenstein Genetics of the epilepsies: where are we and where are we going? Curr. Opin. Neurol. 26 2013 179 185
    • (2013) Curr. Opin. Neurol. , vol.26 , pp. 179-185
    • Helbig, I.1    Lowenstein, D.H.2
  • 10
    • 84891890141 scopus 로고    scopus 로고
    • Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family
    • A.M. Pajor Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family Pflügers Arch. 466 2014 119 130
    • (2014) Pflügers Arch. , vol.466 , pp. 119-130
    • Pajor, A.M.1
  • 12
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • R. Grantham Amino acid difference formula to help explain protein evolution Science 185 1974 862 864
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 14
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • M. Kircher, D.M. Witten, P. Jain, B.J. O'Roak, G.M. Cooper, and J. Shendure A general framework for estimating the relative pathogenicity of human genetic variants Nat. Genet. 46 2014 310 315
    • (2014) Nat. Genet. , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 15
    • 84869884515 scopus 로고    scopus 로고
    • Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter
    • R. Mancusso, G.G. Gregorio, Q. Liu, and D.-N. Wang Structure and mechanism of a bacterial sodium-dependent dicarboxylate transporter Nature 491 2012 622 626
    • (2012) Nature , vol.491 , pp. 622-626
    • Mancusso, R.1    Gregorio, G.G.2    Liu, Q.3    Wang, D.-N.4
  • 16
    • 0033535931 scopus 로고    scopus 로고
    • Acidic residues involved in cation and substrate interactions in the Na+/dicarboxylate cotransporter, NaDC-1
    • D.A. Griffith, and A.M. Pajor Acidic residues involved in cation and substrate interactions in the Na+/dicarboxylate cotransporter, NaDC-1 Biochemistry 38 1999 7524 7531
    • (1999) Biochemistry , vol.38 , pp. 7524-7531
    • Griffith, D.A.1    Pajor, A.M.2
  • 17
    • 1642464014 scopus 로고    scopus 로고
    • Functional features and genomic organization of mouse NaCT, a sodium-coupled transporter for tricarboxylic acid cycle intermediates
    • DOI 10.1042/BJ20031261
    • K. Inoue, Y.-J. Fei, L. Zhuang, E. Gopal, S. Miyauchi, and V. Ganapathy Functional features and genomic organization of mouse NaCT, a sodium-coupled transporter for tricarboxylic acid cycle intermediates Biochem. J. 378 2004 949 957 (Pubitemid 38406872)
    • (2004) Biochemical Journal , vol.378 , Issue.3 , pp. 949-957
    • Inoue, K.1    Fei, Y.-J.2    Zhuang, L.3    Gopal, E.4    Miyauchi, S.5    Ganapathy, V.6
  • 18
    • 0033545959 scopus 로고    scopus 로고
    • Determinants of substrate and cation affinities in the Na+/dicarboxylate cotransporter
    • E.S. Kahn, and A.M. Pajor Determinants of substrate and cation affinities in the Na+/dicarboxylate cotransporter Biochemistry 38 1999 6151 6156
    • (1999) Biochemistry , vol.38 , pp. 6151-6156
    • Kahn, E.S.1    Pajor, A.M.2
  • 19
    • 0035839457 scopus 로고    scopus 로고
    • Conformationally sensitive residues in transmembrane domain 9 of the Na+/dicarboxylate co-transporter
    • A.M. Pajor Conformationally sensitive residues in transmembrane domain 9 of the Na+/dicarboxylate co-transporter J. Biol. Chem. 276 2001 29961 29968
    • (2001) J. Biol. Chem. , vol.276 , pp. 29961-29968
    • Pajor, A.M.1
  • 23
    • 0022256896 scopus 로고
    • Citrate synthase activity increases in homogenates of the cerebral cortex from rats treated with the convulsant 3-mercaptopropionic acid
    • DOI 10.1016/0197-0186(85)90066-X
    • E. Girardi, and G.R. Lores Arnaiz Citrate synthase activity increases in homogenates of the cerebral cortex from rats treated with the convulsant 3-mercaptopropionic acid Neurochem. Int. 7 1985 683 688 (Pubitemid 15010642)
    • (1985) Neurochemistry International , vol.7 , Issue.4 , pp. 683-688
    • Girardi, E.1    De Lores Arnaiz, G.R.2
  • 31
    • 84875255103 scopus 로고    scopus 로고
    • Energy depletion in seizures: Anaplerosis as a strategy for future therapies
    • S. Kovac, A.Y. Abramov, and M.C. Walker Energy depletion in seizures: anaplerosis as a strategy for future therapies Neuropharmacology 69 2013 96 104
    • (2013) Neuropharmacology , vol.69 , pp. 96-104
    • Kovac, S.1    Abramov, A.Y.2    Walker, M.C.3
  • 32
    • 84864090873 scopus 로고    scopus 로고
    • Triheptanoin - A medium chain triglyceride with odd chain fatty acids: A new anaplerotic anticonvulsant treatment?
    • K. Borges, and U. Sonnewald Triheptanoin - a medium chain triglyceride with odd chain fatty acids: a new anaplerotic anticonvulsant treatment? Epilepsy Res. 100 2012 239 244
    • (2012) Epilepsy Res. , vol.100 , pp. 239-244
    • Borges, K.1    Sonnewald, U.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.